Canonical Allele Identifier: CA126269
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16209
ClinVar RCV Id: RCV000017594
dbSNP Id: rs121909674

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153132C>T , CM000667.2:g.162153132C>T GRCh38
NC_000005.9:g.161580138C>T , CM000667.1:g.161580138C>T GRCh37
NC_000005.8:g.161512716C>T NCBI36
NG_009290.1:g.90491C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1193C>T
ENST00000361925.9:c.1288C>T ENSP00000354651.5:p.Gln430Ter
ENST00000523372.2:c.1251C>T
ENST00000638253.1:n.446C>T
ENST00000638552.1:c.883C>T ENSP00000491763.1:p.Gln295Ter
ENST00000638660.1:c.907C>T ENSP00000492869.1:p.Gln303Ter
ENST00000638772.1:c.*3789C>T ENSP00000491557.1:n.*3789C>T
ENST00000638877.1:c.1069C>T
ENST00000639046.1:c.559C>T ENSP00000492659.1:p.Gln187Ter
ENST00000639111.2:c.1168C>T ENSP00000492125.2:p.Gln390Ter
ENST00000639213.2:c.1192C>T MANE Select ENSP00000491909.2:p.Gln398Ter
ENST00000639278.1:c.1855C>T ENSP00000491958.1:n.1855C>T
ENST00000639384.1:c.*1373C>T ENSP00000491240.1:n.*1373C>T
ENST00000639424.1:c.*392C>T ENSP00000491245.1:n.*392C>T
ENST00000639683.1:c.1126C>T ENSP00000492581.1:p.Gln376Ter
ENST00000639975.1:c.1102C>T ENSP00000492096.1:p.Gln368Ter
ENST00000640500.1:n.466C>T
ENST00000640739.1:n.6139C>T
ENST00000640910.1:c.630C>T
ENST00000640985.1:c.1105C>T ENSP00000492293.1:p.Gln369Ter
ENST00000641017.1:c.1261C>T ENSP00000493461.1:p.Gln421Ter
ENST00000356592.7:c.1192C>T ENSP00000349000.3:p.Gln398Ter
ENST00000361925.8:c.1168C>T ENSP00000354651.4:p.Gln390Ter
ENST00000414552.6:c.1312C>T ENSP00000410732.2:p.Gln438Ter
ENST00000522990.5:c.*770C>T ENSP00000430732.1:n.*770C>T
ENST00000523372.1:c.1289C>T ENSP00000430124.1:n.1289C>T
NM_000816.3:c.1168C>T NP_000807.2:p.Gln390Ter
NM_198903.2:c.1312C>T NP_944493.2:p.Gln438Ter
NM_198904.2:c.1192C>T NP_944494.1:p.Gln398Ter
NM_001375339.1:c.1183C>T NP_001362268.1:p.Gln395Ter
NM_001375340.1:c.*26C>T NP_001362269.1:n.*26C>T
NM_001375341.1:c.1189C>T NP_001362270.1:p.Gln397Ter
NM_001375342.1:c.1165C>T NP_001362271.1:p.Gln389Ter
NM_001375343.1:c.1288C>T NP_001362272.1:p.Gln430Ter
NM_001375344.1:c.1231C>T NP_001362273.1:p.Gln411Ter
NM_001375345.1:c.1102C>T NP_001362274.1:p.Gln368Ter
NM_001375346.1:c.1126C>T NP_001362275.1:p.Gln376Ter
NM_001375347.1:c.1105C>T NP_001362276.1:p.Gln369Ter
NM_001375348.1:c.748C>T NP_001362277.1:p.Gln250Ter
NM_001375349.1:c.883C>T NP_001362278.1:p.Gln295Ter
NM_001375350.1:c.772C>T NP_001362279.1:p.Gln258Ter
NM_198904.3:c.1192C>T NP_944494.1:p.Gln398Ter
NM_198904.4:c.1192C>T MANE Select NP_944494.1:p.Gln398Ter