Canonical Allele Identifier: CA1596380283
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149278C= , CM000667.2:g.162149278C= GRCh38
NC_000005.9:g.161576284C= , CM000667.1:g.161576284C= GRCh37
NC_000005.8:g.161508862C= NCBI36
NG_009290.1:g.86637C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1094C=
ENST00000361925.9:c.1213C= ENSP00000354651.5:p.Pro405=
ENST00000523372.2:c.1176C=
ENST00000638253.1:n.347C=
ENST00000638552.1:c.808C= ENSP00000491763.1:p.Pro270=
ENST00000638660.1:c.808C= ENSP00000492869.1:p.Pro270=
ENST00000638772.1:c.1093C= ENSP00000491557.1:p.Pro365=
ENST00000638877.1:c.970C=
ENST00000639046.1:c.484C= ENSP00000492659.1:p.Pro162=
ENST00000639111.2:c.1093C= ENSP00000492125.2:p.Pro365=
ENST00000639213.2:c.1093C= MANE Select ENSP00000491909.2:p.Pro365=
ENST00000639278.1:c.1021C= ENSP00000491958.1:p.Pro341=
ENST00000639384.1:c.1093C= ENSP00000491240.1:p.Pro365=
ENST00000639424.1:c.*293C= ENSP00000491245.1:n.*293C=
ENST00000639683.1:c.1027C= ENSP00000492581.1:p.Pro343=
ENST00000639975.1:c.1027C= ENSP00000492096.1:p.Pro343=
ENST00000640500.1:n.391C=
ENST00000640574.1:c.808C= ENSP00000491582.1:p.Pro270=
ENST00000640739.1:n.3624C=
ENST00000640910.1:c.531C=
ENST00000640985.1:c.1006C= ENSP00000492293.1:p.Pro336=
ENST00000641017.1:c.1093C= ENSP00000493461.1:p.Pro365=
ENST00000356592.7:c.1093C= ENSP00000349000.3:p.Pro365=
ENST00000361925.8:c.1093C= ENSP00000354651.4:p.Pro365=
ENST00000414552.6:c.1213C= ENSP00000410732.2:p.Pro405=
ENST00000522990.5:c.*695C= ENSP00000430732.1:n.*695C=
ENST00000523372.1:c.1214C= ENSP00000430124.1:n.1214C=
NM_000816.3:c.1093C= NP_000807.2:p.Pro365=
NM_198903.2:c.1213C= NP_944493.2:p.Pro405=
NM_198904.2:c.1093C= NP_944494.1:p.Pro365=
NM_001375339.1:c.1084C= NP_001362268.1:p.Pro362=
NM_001375340.1:c.923-2452C= NP_001362269.1:n.923-2452C=
NM_001375341.1:c.1090C= NP_001362270.1:p.Pro364=
NM_001375342.1:c.1090C= NP_001362271.1:p.Pro364=
NM_001375343.1:c.1213C= NP_001362272.1:p.Pro405=
NM_001375344.1:c.1132C= NP_001362273.1:p.Pro378=
NM_001375345.1:c.1027C= NP_001362274.1:p.Pro343=
NM_001375346.1:c.1027C= NP_001362275.1:p.Pro343=
NM_001375347.1:c.1006C= NP_001362276.1:p.Pro336=
NM_001375348.1:c.673C= NP_001362277.1:p.Pro225=
NM_001375349.1:c.808C= NP_001362278.1:p.Pro270=
NM_001375350.1:c.673C= NP_001362279.1:p.Pro225=
NM_198904.3:c.1093C= NP_944494.1:p.Pro365=
NM_198904.4:c.1093C= MANE Select NP_944494.1:p.Pro365=