CELSR2 cadherin EGF LAG seven-pass G-type receptor 2

Canonical transcript: NM_001408

157 unique variant annotations were identified in 392 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-109792705-C-A c.4C>A p.Arg2Arg Synonymous 1/34 - 5
1-109792707-G-A c.6G>A p.Arg2Arg Synonymous 1/34 - 5
1-109792707-G-C c.6G>C p.Arg2Arg Synonymous 1/34 - 5
1-109792707-G-T c.6G>T p.Arg2Arg Synonymous 1/34 - 5
1-109792720-G-A c.19G>A p.Gly7Ser Missense 1/34 - 1
1-109792751-T-C c.50T>C p.Leu17Pro Missense 1/34 - 1
1-109792897-T-G c.196T>G p.Trp66Gly Missense 1/34 - 1
1-109792967-G-A c.266G>A p.Gly89Asp Missense 1/34 - 1
1-109792973-G-A c.272G>A p.Arg91Lys Missense 1/34 - 1
1-109793011-C-T c.310C>T p.Pro104Ser Missense 1/34 - 1
1-109793046-C-A c.345C>A p.Arg115Arg Synonymous 1/34 - 1
1-109793054-G-A c.353G>A p.Gly118Asp Missense 1/34 - 1
1-109793077-C-A c.376C>A p.Gln126Lys Missense 1/34 - 2
1-109793234-C-T c.533C>T p.Ala178Val Missense 1/34 - 1
1-109793356-A-G c.655A>G p.Thr219Ala Missense 1/34 - 1
1-109793467-G-A c.766G>A p.Val256Ile Missense 1/34 - 1
1-109793758-G-A c.1057G>A p.Gly353Ser Missense 1/34 - 1
1-109793851-G-A c.1150G>A p.Ala384Thr Missense 1/34 - 2
1-109793851-G-C c.1150G>C p.Ala384Pro Missense 1/34 - 1
1-109793851-G-T c.1150G>T p.Ala384Ser Missense 1/34 - 1
1-109794032-G-A c.1331G>A p.Arg444Gln Missense 1/34 - 1
1-109794032-G-T c.1331G>T p.Arg444Leu Missense 1/34 - 1
1-109794143-G-A c.1442G>A p.Arg481His Missense 1/34 - 1
1-109794252-T-C c.1551T>C p.Ser517Ser Synonymous 1/34 - 2
1-109794252-T-G c.1551T>G p.Ser517Arg Missense 1/34 - 2
1-109794398-C-A c.1697C>A p.Ala566Asp Missense 1/34 - 1
1-109794437-G-C c.1736G>C p.Gly579Ala Missense 1/34 - 1
1-109794493-G-A c.1792G>A p.Val598Met Missense 1/34 - 1
1-109794583-A-G c.1882A>G p.Ser628Gly Missense 1/34 - 1
1-109794593-C-T c.1892C>T p.Thr631Met Missense 1/34 - 2
1-109794986-C-T c.2285C>T p.Ala762Val Missense 1/34 - 1
1-109795026-T-C c.2325T>C p.Tyr775Tyr Synonymous 1/34 - 2
1-109795608-T-A c.2907T>A p.Phe969Leu Missense 1/34 - 2
1-109795608-T-C c.2907T>C p.Phe969Phe Synonymous 1/34 - 2
1-109795666-C-T c.2965C>T p.Arg989Trp Missense 1/34 - 1
1-109795742-T-A c.3041T>A p.Leu1014His Missense 1/34 - 1
1-109795832-G-A c.3131G>A p.Gly1044Asp Missense 1/34 - 1
1-109796757-G-A c.3310+746G>A - IntronicSNV - 1/33 1
1-109796757-G-C c.3310+746G>C - IntronicSNV - 1/33 1
1-109796865-G-A c.3310+854G>A - IntronicSNV - 1/33 1
1-109798359-C-T c.3310+2348C>T - IntronicSNV - 1/33 1
1-109798721-G-A c.3311-2333G>A - IntronicSNV - 1/33 3
1-109799244-T-C c.3311-1810T>C - IntronicSNV - 1/33 2
1-109799394-T-G c.3311-1660T>G - IntronicSNV - 1/33 1
1-109799575-C-T c.3311-1479C>T - IntronicSNV - 1/33 1
1-109800131-A-G c.3311-923A>G - IntronicSNV - 1/33 1
1-109800218-G-C c.3311-836G>C - IntronicSNV - 1/33 1
1-109800321-C-T c.3311-733C>T - IntronicSNV - 1/33 3
1-109800349-G-A c.3311-705G>A - IntronicSNV - 1/33 3
1-109800514-C-T c.3311-540C>T - IntronicSNV - 1/33 1
1-109800627-A-T c.3311-427A>T - IntronicSNV - 1/33 1
1-109801099-T-C c.3356T>C p.Ile1119Thr Missense 2/34 - 1
1-109801121-C-T c.3378C>T p.Thr1126Thr Synonymous 2/34 - 1
1-109801265-C-G c.3522C>G p.Asp1174Glu Missense 2/34 - 1
1-109801311-C-G c.3568C>G p.Pro1190Ala Missense 2/34 - 1
1-109801311-C-T c.3568C>T p.Pro1190Ser Missense 2/34 - 1
1-109801345-C-T c.3602C>T p.Pro1201Leu Missense 2/34 - 4
1-109801543-A-C c.3800A>C p.His1267Pro Missense 2/34 - 1
1-109801543-A-G c.3800A>G p.His1267Arg Missense 2/34 - 4
1-109801547-C-A c.3804C>A p.Pro1268Pro Synonymous 2/34 - 1
1-109801547-C-G c.3804C>G p.Pro1268Pro Synonymous 2/34 - 1
1-109801547-C-T c.3804C>T p.Pro1268Pro Synonymous 2/34 - 1
1-109801573-C-T c.3830C>T p.Pro1277Leu Missense 2/34 - 1
1-109801928-T-C c.3958+227T>C - IntronicSNV - 2/33 1
1-109801928-T-G c.3958+227T>G - IntronicSNV - 2/33 1
1-109802031-G-A c.3958+330G>A - IntronicSNV - 2/33 1
1-109802233-C-T c.3958+532C>T - IntronicSNV - 2/33 1
1-109802400-C-T c.3958+699C>T - IntronicSNV - 2/33 1
1-109803697-G-A c.3992G>A p.Arg1331His Missense 3/34 - 1
1-109804646-G-A c.4386+128G>A - IntronicSNV - 5/33 8
1-109804883-C-G c.4387-26C>G - IntronicSNV - 5/33 2
1-109804883-C-T c.4387-26C>T - IntronicSNV - 5/33 2
1-109804976-A-G c.4454A>G p.Asp1485Gly Missense 6/34 - 1
1-109805544-G-A c.4661G>A p.Arg1554Gln Missense 7/34 - 1
1-109805550-T-C c.4667T>C p.Ile1556Thr Missense 7/34 - 1
1-109806138-C-T c.4835-95C>T - IntronicSNV - 8/33 1
1-109806313-T-C c.4915T>C p.Tyr1639His Missense 9/34 - 5
1-109806349-G-A c.4951G>A p.Gly1651Ser Missense 9/34 - 1
1-109806442-C-A c.5001+43C>A - IntronicSNV - 9/33 1
1-109806442-C-T c.5001+43C>T - IntronicSNV - 9/33 1
1-109806834-C-A c.5136C>A p.Pro1712Pro Synonymous 10/34 - 3
1-109806834-C-G c.5136C>G p.Pro1712Pro Synonymous 10/34 - 1
1-109806834-C-T c.5136C>T p.Pro1712Pro Synonymous 10/34 - 3
1-109807099-G-A c.5313G>A p.Pro1771Pro Synonymous 11/34 - 3
1-109807099-G-C c.5313G>C p.Pro1771Pro Synonymous 11/34 - 3
1-109807283-A-C c.5464+33A>C - IntronicSNV - 11/33 13
1-109807283-A-T c.5464+33A>T - IntronicSNV - 11/33 13
1-109807498-G-A c.5473G>A p.Gly1825Ser Missense 12/34 - 1
1-109807915-C-T c.5709C>T p.Ser1903Ser Synonymous 13/34 - 1
1-109808117-C-T c.5727+184C>T - IntronicSNV - 13/33 5
1-109808444-G-A c.5815G>A p.Glu1939Lys Missense 14/34 - 1
1-109808495-C-T c.5866C>T p.Arg1956Cys Missense 14/34 - 1
1-109808784-G-A c.5969G>A p.Arg1990His Missense 15/34 - 2
1-109808789-G-A c.5974G>A p.Gly1992Arg Missense 15/34 - 2
1-109808789-G-C c.5974G>C p.Gly1992Arg Missense 15/34 - 2
1-109810199-A-G c.6043A>G p.Arg2015Gly Missense 16/34 - 1
1-109810200-G-A c.6044G>A p.Arg2015Lys Missense 16/34 - 2
1-109810201-G-A c.6045G>A p.Arg2015Arg Synonymous 16/34 - 1
1-109810201-G-C c.6045G>C p.Arg2015Ser Missense 16/34 - 1
1-109810201-G-T c.6045G>T p.Arg2015Ser Missense 16/34 - 1
1-109810232-ACG-CAT c.6076_6078delinsCAT p.Thr2026His Missense 16/34 - 1
1-109810233-C-T c.6077C>T p.Thr2026Met Missense 16/34 - 2
1-109810544-C-A c.6180C>A p.Arg2060Arg Synonymous 17/34 - 3
1-109810544-C-G c.6180C>G p.Arg2060Arg Synonymous 17/34 - 1
1-109810544-C-T c.6180C>T p.Arg2060Arg Synonymous 17/34 - 1
1-109810618-T-G c.6254T>G p.Leu2085Arg Missense 17/34 - 1
1-109810981-G-A c.6319-222G>A - IntronicSNV - 17/33 5
1-109811341-C-G c.6457C>G p.Arg2153Gly Missense 18/34 - 1
1-109811508-C-T c.6509C>T p.Ser2170Phe Missense 19/34 - 1
1-109811522-G-A c.6523G>A p.Asp2175Asn Missense 19/34 - 2
1-109811571-G-A c.6572G>A p.Arg2191His Missense 19/34 - 1
1-109812092-G-A c.6859G>A p.Val2287Ile Missense 21/34 - 2
1-109812141-C-T c.6908C>T p.Thr2303Met Missense 21/34 - 1
1-109812321-G-A c.6986G>A p.Ser2329Asn Missense 22/34 - 1
1-109812606-A-G c.7159A>G p.Thr2387Ala Missense 23/34 - 1
1-109812636-TTC-AAG c.7189_7191delinsAAG p.Phe2397Lys Missense 23/34 - 1
1-109813145-C-T c.7406C>T p.Thr2469Ile Missense 24/34 - 1
1-109813177-C-T c.7438C>T p.Arg2480Cys Missense 24/34 - 2
1-109813485-C-A c.7484-64C>A - IntronicSNV - 24/33 4
1-109813485-C-T c.7484-64C>T - IntronicSNV - 24/33 4
1-109813510-A-C c.7484-39A>C - IntronicSNV - 24/33 2
1-109813510-A-T c.7484-39A>T - IntronicSNV - 24/33 2
1-109813719-C-T c.7596+58C>T - IntronicSNV - 25/33 4
1-109814294-C-T c.7876C>T p.Arg2626Cys Missense 28/34 - 2
1-109814721-G-A c.7927-179G>A - IntronicSNV - 28/33 1
1-109814880-C-T c.7927-20C>T - IntronicSNV - 28/33 43
1-109815133-G-A c.8054+106G>A - IntronicSNV - 29/33 1
1-109815211-C-A c.8055-51C>A - IntronicSNV - 29/33 1
1-109815252-A-G c.8055-10A>G - IntronicSNV - 29/33 36
1-109815368-T-C c.8143+18T>C - IntronicSNV - 30/33 1
1-109815496-G-C c.8185G>C p.Asp2729His Missense 31/34 - 1
1-109815529-T-A c.8218T>A p.Ser2740Thr Missense 31/34 - 1
1-109815746-A-G c.8339-42A>G - IntronicSNV - 31/33 1
1-109815866-C-A c.8417C>A p.Ala2806Asp Missense 32/34 - 2
1-109815866-C-T c.8417C>T p.Ala2806Val Missense 32/34 - 2
1-109815883-C-T c.8434C>T p.Arg2812Trp Missense 32/34 - 2
1-109815913-G-A c.8464G>A p.Gly2822Arg Missense 32/34 - 1
1-109815913-G-C c.8464G>C p.Gly2822Arg Missense 32/34 - 1
1-109816091-G-A c.8543G>A p.Ser2848Asn Missense 33/34 - 1
1-109816091-G-T c.8543G>T p.Ser2848Ile Missense 33/34 - 1
1-109817192-A-G c.*521A>G - 3-UTRSNV 34/34 - 66
1-109817245-C-G c.*574C>G - 3-UTRSNV 34/34 - 6
1-109817245-C-T c.*574C>T - 3-UTRSNV 34/34 - 6
1-109817479-G-A c.*808G>A - 3-UTRSNV 34/34 - 1
1-109817479-G-C c.*808G>C - 3-UTRSNV 34/34 - 1
1-109817590-G-T c.*919G>T - 3-UTRSNV 34/34 - 202
1-109817838-T-C c.*1167T>C - 3-UTRSNV 34/34 - 60
1-109818128-C-T c.*1457C>T - 3-UTRSNV 34/34 - 1
1-109818158-C-A c.*1487C>A - 3-UTRSNV 34/34 - 6
1-109818158-C-CT c.*1487_*1488insT - 3-UTRInsertion 34/34 - 8
1-109818158-C-G c.*1487C>G - 3-UTRSNV 34/34 - 6
1-109818158-C-T c.*1487C>T - 3-UTRSNV 34/34 - 6
1-109818263-G-A c.*1592G>A - 3-UTRSNV 34/34 - 1
1-109818263-G-C c.*1592G>C - 3-UTRSNV 34/34 - 1
1-109818263-G-T c.*1592G>T - 3-UTRSNV 34/34 - 1
1-109818270-C-T c.*1599C>T - 3-UTRSNV 34/34 - 1
1-109818306-G-T c.*1635G>T - 3-UTRSNV 34/34 - 164