SCGB2A2

SCGB2A2 secretoglobin family 2A member 2

Annotation transcript: NM_002411.4

84 unique variant annotations were identified in 69 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
11-62037700-G-T c.12G>T p.L4= Synonymous 1/3 - 1
11-62037701-A-G c.13A>G p.M5V Missense 1/3 - 1
11-62037709-C-T c.21C>T p.L7= Synonymous 1/3 - 1
11-62037713-C-G c.25C>G p.L9V Missense 1/3 - 1
11-62037716-G-A c.28G>A p.A10T Missense 1/3 - 2
11-62037717-C-T c.29C>T p.A10V Missense 1/3 - 6
11-62037719-G-A c.31G>A p.A11T Missense 1/3 - 1
11-62037722-C-T c.34C>T p.L12F Missense 1/3 - 1
11-62037723-T-A c.35T>A p.L12H Missense 1/3 - 1
11-62037726-C-G c.38C>G p.S13C Missense 1/3 - 6
11-62037726-C-T c.38C>T p.S13F Missense 1/3 - 4
11-62037727-C-A c.39C>A p.S13= Synonymous 1/3 - 2
11-62037727-C-G c.39C>G p.S13= Synonymous 1/3 - 2
11-62037727-C-T c.39C>T p.S13= Synonymous 1/3 - 2
11-62037728-C-A c.40C>A p.Q14K Missense 1/3 - 1
11-62037729-A-T c.41A>T p.Q14L Missense 1/3 - 2
11-62037739-C-A c.51C>A p.Y17* Nonsense 1/3 - 1
11-62037739-C-T c.51C>T p.Y17= Synonymous 1/3 - 4
11-62037740-GCA-ATG c.52_54delinsATG p.A18M Missense 1/3 - 1
11-62037740-GC-AG c.52_53delinsAG p.A18R Missense 1/3 - 1
11-62037740-GCA-TTT c.52_54delinsTTT p.A18F Missense 1/3 - 1
11-62037740-G-T c.52G>T p.A18S Missense 1/3 - 1
11-62037904-TGA-T c.55+163_55+164del - IntronicDeletion - 1/2 1
11-62038354-C-T c.57C>T p.G19= Synonymous 2/3 - 1
11-62038359-G-A c.62G>A p.G21D Missense 2/3 - 1
11-62038362-G-A c.65G>A p.C22Y Missense 2/3 - 1
11-62038370-T-C c.73T>C p.L25= Synonymous 2/3 - 1
11-62038372-G-A c.75G>A p.L25= Synonymous 2/3 - 3
11-62038373-G-T c.76G>T p.E26* Nonsense 2/3 - 2
11-62038375-G-A c.78G>A p.E26= Synonymous 2/3 - 1
11-62038387-C-A c.90C>A p.S30= Synonymous 2/3 - 1
11-62038398-A-T c.101A>T p.N34I Missense 2/3 - 1
11-62038400-C-A c.103C>A p.P35T Missense 2/3 - 1
11-62038405-A-C c.108A>C p.Q36H Missense 2/3 - 1
11-62038405-A-T c.108A>T p.Q36H Missense 2/3 - 1
11-62038408-G-C c.111G>C p.V37= Synonymous 2/3 - 1
11-62038418-G-A c.121G>A p.E41K Missense 2/3 - 2
11-62038427-G-C c.130G>C p.E44Q Missense 2/3 - 1
11-62038429-A-C c.132A>C p.E44D Missense 2/3 - 1
11-62038429-A-G c.132A>G p.E44= Synonymous 2/3 - 1
11-62038429-A-T c.132A>T p.E44D Missense 2/3 - 1
11-62038430-C-T c.133C>T p.L45F Missense 2/3 - 1
11-62038433-C-T c.136C>T p.L46F Missense 2/3 - 1
11-62038439-G-T c.142G>T p.E48* Nonsense 2/3 - 1
11-62038444-C-T c.147C>T p.F49= Synonymous 2/3 - 1
11-62038448-G-A c.151G>A p.D51N Missense 2/3 - 1
11-62038449-A-G c.152A>G p.D51G Missense 2/3 - 1
11-62038450-C-T c.153C>T p.D51= Synonymous 2/3 - 2
11-62038457-G-A c.160G>A p.A54T Missense 2/3 - 3
11-62038457-G-T c.160G>T p.A54S Missense 2/3 - 1
11-62038458-C-T c.161C>T p.A54V Missense 2/3 - 1
11-62038463-A-T c.166A>T p.T56S Missense 2/3 - 1
11-62038465-AAATGCCATAGATGAATTG-A c.171_188del p.N57_L62del InFrameDeletion 2/3 - 1
11-62038469-G-A c.172G>A p.A58T Missense 2/3 - 1
11-62038470-C-T c.173C>T p.A58V Missense 2/3 - 3
11-62038475-G-C c.178G>C p.D60H Missense 2/3 - 1
11-62038478-G-A c.181G>A p.E61K Missense 2/3 - 1
11-62038478-G-T c.181G>T p.E61* Nonsense 2/3 - 2
11-62038487-G-A c.190G>A p.E64K Missense 2/3 - 2
11-62038495-T-C c.198T>C p.F66= Synonymous 2/3 - 1
11-62038502-C-A c.205C>A p.Q69K Missense 2/3 - 2
11-62038506-C-T c.209C>T p.T70M Missense 2/3 - 1
11-62038509-A-G c.212A>G p.D71G Missense 2/3 - 1
11-62038511-G-T c.214G>T p.E72* Nonsense 2/3 - 1
11-62038514-A-C c.217A>C p.T73P Missense 2/3 - 1
11-62038519-G-T c.222G>T p.L74= Synonymous 2/3 - 1
11-62038523-A-G c.226A>G p.N76D Missense 2/3 - 1
11-62038530-A-G c.233A>G p.E78G Missense 2/3 - 1
11-62038532-G-A c.235G>A p.V79M Missense 2/3 - 1
11-62038537-T-C c.240T>C p.F80= Synonymous 2/3 - 1
11-62038540-G-A c.243G>A p.M81I Missense 2/3 - 3
11-62038595-G-A c.243+55G>A - IntronicSNV - 2/2 1
11-62038630-CT-C c.243+90del - IntronicDeletion - 2/2 1
11-62039401-C-T c.243+861C>T - IntronicSNV - 2/2 1
11-62039646-A-G c.244-783A>G - IntronicSNV - 2/2 1
11-62040430-A-T c.245A>T p.Q82L Missense 3/3 - 1
11-62040444-A-G c.259A>G p.S87G Missense 3/3 - 2
11-62040446-C-T c.261C>T p.S87= Synonymous 3/3 - 1
11-62040448-G-T c.263G>T p.S88I Missense 3/3 - 1
11-62040450-C-A c.265C>A p.L89I Missense 3/3 - 1
11-62040450-C-G c.265C>G p.L89V Missense 3/3 - 1
11-62040452-T-G c.267T>G p.L89= Synonymous 3/3 - 1
11-62040459-T-G c.274T>G p.L92V Missense 3/3 - 1
11-62040519-A-G c.*52A>G - 3-UTRSNV 3/3 - 5