Canonical Allele Identifier: CA362183696

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580241G>A (hg19) ; chr5:g.162153235G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153235G>A , CM000667.2:g.162153235G>A	GRCh38
NC_000005.9:g.161580241G>A , CM000667.1:g.161580241G>A	GRCh37
NC_000005.8:g.161512819G>A	NCBI36
NG_009290.1:g.90594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1296G>A
ENST00000361925.9:c.1391G>A	ENSP00000354651.5:p.Cys464Tyr
ENST00000523372.2:c.1354G>A
ENST00000638253.1:n.549G>A
ENST00000638552.1:c.986G>A	ENSP00000491763.1:p.Cys329Tyr
ENST00000638660.1:c.1010G>A	ENSP00000492869.1:p.Cys337Tyr
ENST00000638772.1:c.*3892G>A	ENSP00000491557.1:n.*3892G>A
ENST00000638877.1:c.1172G>A
ENST00000639046.1:c.662G>A	ENSP00000492659.1:p.Cys221Tyr
ENST00000639111.2:c.1271G>A	ENSP00000492125.2:p.Cys424Tyr
ENST00000639213.2:c.1295G>A MANE Select	ENSP00000491909.2:p.Cys432Tyr
ENST00000639278.1:c.1958G>A	ENSP00000491958.1:n.1958G>A
ENST00000639384.1:c.*1476G>A	ENSP00000491240.1:n.*1476G>A
ENST00000639424.1:c.*495G>A	ENSP00000491245.1:n.*495G>A
ENST00000639683.1:c.1229G>A	ENSP00000492581.1:p.Cys410Tyr
ENST00000639975.1:c.1205G>A	ENSP00000492096.1:p.Cys402Tyr
ENST00000640500.1:n.569G>A
ENST00000640739.1:n.6242G>A
ENST00000640910.1:c.733G>A
ENST00000640985.1:c.1208G>A	ENSP00000492293.1:p.Cys403Tyr
ENST00000641017.1:c.1364G>A	ENSP00000493461.1:p.Cys455Tyr
ENST00000356592.7:c.1295G>A	ENSP00000349000.3:p.Cys432Tyr
ENST00000361925.8:c.1271G>A	ENSP00000354651.4:p.Cys424Tyr
ENST00000414552.6:c.1415G>A	ENSP00000410732.2:p.Cys472Tyr
ENST00000522990.5:c.*873G>A	ENSP00000430732.1:n.*873G>A
ENST00000523372.1:c.1392G>A	ENSP00000430124.1:n.1392G>A
NM_000816.3:c.1271G>A	NP_000807.2:p.Cys424Tyr
NM_198903.2:c.1415G>A	NP_944493.2:p.Cys472Tyr
NM_198904.2:c.1295G>A	NP_944494.1:p.Cys432Tyr
NM_001375339.1:c.1286G>A	NP_001362268.1:p.Cys429Tyr
NM_001375340.1:c.*129G>A	NP_001362269.1:n.*129G>A
NM_001375341.1:c.1292G>A	NP_001362270.1:p.Cys431Tyr
NM_001375342.1:c.1268G>A	NP_001362271.1:p.Cys423Tyr
NM_001375343.1:c.1391G>A	NP_001362272.1:p.Cys464Tyr
NM_001375344.1:c.1334G>A	NP_001362273.1:p.Cys445Tyr
NM_001375345.1:c.1205G>A	NP_001362274.1:p.Cys402Tyr
NM_001375346.1:c.1229G>A	NP_001362275.1:p.Cys410Tyr
NM_001375347.1:c.1208G>A	NP_001362276.1:p.Cys403Tyr
NM_001375348.1:c.851G>A	NP_001362277.1:p.Cys284Tyr
NM_001375349.1:c.986G>A	NP_001362278.1:p.Cys329Tyr
NM_001375350.1:c.875G>A	NP_001362279.1:p.Cys292Tyr
NM_198904.3:c.1295G>A	NP_944494.1:p.Cys432Tyr
NM_198904.4:c.1295G>A MANE Select	NP_944494.1:p.Cys432Tyr