HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2

Canonical transcript: NM_004667

96 unique variant annotations were identified in 197 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-28356859-C-T c.*50G>A - 3-UTRSNV 93/93 - 41
15-28356935-T-C c.14479A>G p.Thr4827Ala Missense 93/93 - 1
15-28357129-CA-GC c.14284_14285delinsGC p.Cys4762Ala Missense 93/93 - 2
15-28357129-C-G c.14285G>C p.Cys4762Ser Missense 93/93 - 2
15-28357130-A-T c.14284T>A p.Cys4762Ser Missense 93/93 - 2
15-28359258-G-A c.13914-434C>T - IntronicSNV - 90/92 1
15-28364059-A-C c.13273-1759T>G - IntronicSNV - 86/92 1
15-28364059-A-G c.13273-1759T>C - IntronicSNV - 86/92 1
15-28365431-A-C c.13272+1061T>G - IntronicSNV - 86/92 4
15-28365431-A-G c.13272+1061T>C - IntronicSNV - 86/92 4
15-28365618-A-G c.13272+874T>C - IntronicSNV - 86/92 160
15-28365733-C-A c.13272+759G>T - IntronicSNV - 86/92 12
15-28368969-C-T c.13188+214G>A - IntronicSNV - 85/92 2
15-28374012-T-A c.12802+1297A>T - IntronicSNV - 83/92 2
15-28374012-T-C c.12802+1297A>G - IntronicSNV - 83/92 2
15-28375414-A-T c.12697T>A p.Ser4233Thr Missense 83/93 - 1
15-28377371-C-T c.12445G>A p.Ala4149Thr Missense 81/93 - 1
15-28380518-T-A c.12230+106A>T - IntronicSNV - 79/92 2
15-28380739-T-C c.12115A>G p.Ile4039Val Missense 79/93 - 1
15-28384491-G-A c.12015+2087C>T - IntronicSNV - 78/92 1
15-28386626-C-T c.11967G>A p.Gln3989Gln Synonymous 78/93 - 5
15-28391388-C-T c.11003G>A p.Arg3668Gln Missense 71/93 - 1
15-28391439-C-T c.10952G>A p.Arg3651His Missense 71/93 - 1
15-28396894-G-A c.10900+929C>T - IntronicSNV - 70/92 1
15-28396894-G-T c.10900+929C>A - IntronicSNV - 70/92 1
15-28410491-C-T c.10555-2060G>A - IntronicSNV - 68/92 10
15-28418286-C-G c.10057+1255G>C - IntronicSNV - 65/92 1
15-28418286-C-T c.10057+1255G>A - IntronicSNV - 65/92 1
15-28419619-C-T c.9979G>A p.Val3327Met Missense 65/93 - 1
15-28427986-T-A c.8826-328A>T - IntronicSNV - 56/92 3
15-28437229-T-C c.8329A>G p.Met2777Val Missense 53/93 - 1
15-28437270-G-C c.8288C>G p.Ser2763Cys Missense 53/93 - 1
15-28440287-T-A c.8260+1074A>T - IntronicSNV - 52/92 11
15-28440287-T-C c.8260+1074A>G - IntronicSNV - 52/92 11
15-28441498-C-G c.8123G>C p.Cys2708Ser Missense 52/93 - 1
15-28441499-A-T c.8122T>A p.Cys2708Ser Missense 52/93 - 1
15-28443658-G-T c.7886-9C>A - IntronicSNV - 49/92 2
15-28453215-A-G c.7070-1687T>C - IntronicSNV - 44/92 2
15-28456220-G-A c.6997C>T p.Leu2333Phe Missense 44/93 - 1
15-28458971-G-T c.6703C>A p.Arg2235Ser Missense 42/93 - 1
15-28459329-G-C c.6448C>G p.Leu2150Val Missense 41/93 - 1
15-28459392-G-A c.6385C>T p.Arg2129Cys Missense 41/93 - 1
15-28460924-CT-GC c.6052_6053delinsGC p.Arg2018Ala Missense 39/93 - 1
15-28465787-C-G c.5656G>C p.Gly1886Arg Missense 37/93 - 1
15-28465787-C-T c.5656G>A p.Gly1886Arg Missense 37/93 - 1
15-28467280-T-C c.5546A>G p.Lys1849Arg Missense 36/93 - 1
15-28467935-T-C c.5465-574A>G - IntronicSNV - 35/92 1
15-28468231-G-A c.5465-870C>T - IntronicSNV - 35/92 1
15-28468723-T-G c.5465-1362A>C - IntronicSNV - 35/92 1
15-28472485-C-T c.5464+879G>A - IntronicSNV - 35/92 1
15-28474400-C-G c.5213G>C p.Trp1738Ser Missense 34/93 - 1
15-28483811-C-T c.3685G>A p.Asp1229Asn Missense 24/93 - 1
15-28487069-A-G c.3578-3151T>C - IntronicSNV - 23/92 1
15-28488888-T-C c.3577+2139A>G - IntronicSNV - 23/92 4
15-28491062-T-A c.3542A>T p.Asp1181Val Missense 23/93 - 1
15-28493718-C-G c.3215G>C p.Gly1072Ala Missense 21/93 - 1
15-28494032-G-A c.3051-150C>T - IntronicSNV - 20/92 2
15-28496195-A-G c.3051-2313T>C - IntronicSNV - 20/92 2
15-28501322-G-T c.2659C>A p.Gln887Lys Missense 18/93 - 1
15-28502744-G-A c.2317-337C>T - IntronicSNV - 16/92 1
15-28510853-G-A c.1781C>T p.Pro594Leu Missense 14/93 - 6
15-28510895-G-A c.1757-18C>T - IntronicSNV - 13/92 1
15-28511997-C-T c.1599-877G>A - IntronicSNV - 12/92 2
15-28513364-T-C c.1598+247A>G - IntronicSNV - 12/92 24
15-28513364-T-G c.1598+247A>C - IntronicSNV - 12/92 24
15-28514281-T-A c.1446+113A>T - IntronicSNV - 11/92 4
15-28514281-T-C c.1446+113A>G - IntronicSNV - 11/92 4
15-28514521-AT-GC c.1318_1319delinsGC p.Ile440Ala Missense 11/93 - 1
15-28515976-CAG-TTT c.1120_1122delinsAAA p.Leu374Lys Missense 10/93 - 3
15-28516084-C-T c.1084-70G>A - IntronicSNV - 9/92 9
15-28517504-G-A c.940C>T p.Leu314Phe Missense 9/93 - 1
15-28518121-C-T c.830G>A p.Gly277Glu Missense 8/93 - 1
15-28519524-GC-CT c.712_713delinsAG p.Ala238Ser Missense 7/93 - 1
15-28520107-C-G c.587G>C p.Gly196Ala Missense 6/93 - 1
15-28520506-A-G c.543-355T>C - IntronicSNV - 5/92 1
15-28522684-T-A c.542+2530A>T - IntronicSNV - 5/92 2
15-28522684-T-C c.542+2530A>G - IntronicSNV - 5/92 2
15-28525221-TT-T c.541del p.Ser181Valfs*85 Frameshift 5/93 - 1
15-28526228-G-A c.323-795C>T - IntronicSNV - 4/92 4
15-28530182-C-A c.323-4749G>T - IntronicSNV - 4/92 24
15-28530182-C-T c.323-4749G>A - IntronicSNV - 4/92 24
15-28530359-G-A c.323-4926C>T - IntronicSNV - 4/92 1
15-28532639-T-C c.322+5395A>G - IntronicSNV - 4/92 1
15-28533565-G-A c.322+4469C>T - IntronicSNV - 4/92 1
15-28533565-G-C c.322+4469C>G - IntronicSNV - 4/92 1
15-28533565-G-T c.322+4469C>A - IntronicSNV - 4/92 1
15-28535266-A-C c.322+2768T>G - IntronicSNV - 4/92 4
15-28535675-T-C c.322+2359A>G - IntronicSNV - 4/92 1
15-28538126-TT-GC c.229_230delinsGC p.Asn77Ala Missense 4/93 - 1
15-28538162-C-G c.194G>C p.Ser65Thr Missense 4/93 - 1
15-28538165-T-A c.191A>T p.Asp64Val Missense 4/93 - 1
15-28543879-G-A c.187+669C>T - IntronicSNV - 3/92 1
15-28543879-G-T c.187+669C>A - IntronicSNV - 3/92 1
15-28544637-CA-GC c.97_98delinsGC p.Cys33Ala Missense 3/93 - 3
15-28545148-A-G c.73-486T>C - IntronicSNV - 2/92 1
15-28566537-C-T c.43G>A p.Asp15Asn Missense 2/93 - 1