Canonical Allele Identifier: CA362183548

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580192T>C (hg19) ; chr5:g.162153186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153186T>C , CM000667.2:g.162153186T>C	GRCh38
NC_000005.9:g.161580192T>C , CM000667.1:g.161580192T>C	GRCh37
NC_000005.8:g.161512770T>C	NCBI36
NG_009290.1:g.90545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1247T>C
ENST00000361925.9:c.1342T>C	ENSP00000354651.5:p.Cys448Arg
ENST00000523372.2:c.1305T>C
ENST00000638253.1:n.500T>C
ENST00000638552.1:c.937T>C	ENSP00000491763.1:p.Cys313Arg
ENST00000638660.1:c.961T>C	ENSP00000492869.1:p.Cys321Arg
ENST00000638772.1:c.*3843T>C	ENSP00000491557.1:n.*3843T>C
ENST00000638877.1:c.1123T>C
ENST00000639046.1:c.613T>C	ENSP00000492659.1:p.Cys205Arg
ENST00000639111.2:c.1222T>C	ENSP00000492125.2:p.Cys408Arg
ENST00000639213.2:c.1246T>C MANE Select	ENSP00000491909.2:p.Cys416Arg
ENST00000639278.1:c.1909T>C	ENSP00000491958.1:n.1909T>C
ENST00000639384.1:c.*1427T>C	ENSP00000491240.1:n.*1427T>C
ENST00000639424.1:c.*446T>C	ENSP00000491245.1:n.*446T>C
ENST00000639683.1:c.1180T>C	ENSP00000492581.1:p.Cys394Arg
ENST00000639975.1:c.1156T>C	ENSP00000492096.1:p.Cys386Arg
ENST00000640500.1:n.520T>C
ENST00000640739.1:n.6193T>C
ENST00000640910.1:c.684T>C
ENST00000640985.1:c.1159T>C	ENSP00000492293.1:p.Cys387Arg
ENST00000641017.1:c.1315T>C	ENSP00000493461.1:p.Cys439Arg
ENST00000356592.7:c.1246T>C	ENSP00000349000.3:p.Cys416Arg
ENST00000361925.8:c.1222T>C	ENSP00000354651.4:p.Cys408Arg
ENST00000414552.6:c.1366T>C	ENSP00000410732.2:p.Cys456Arg
ENST00000522990.5:c.*824T>C	ENSP00000430732.1:n.*824T>C
ENST00000523372.1:c.1343T>C	ENSP00000430124.1:n.1343T>C
NM_000816.3:c.1222T>C	NP_000807.2:p.Cys408Arg
NM_198903.2:c.1366T>C	NP_944493.2:p.Cys456Arg
NM_198904.2:c.1246T>C	NP_944494.1:p.Cys416Arg
NM_001375339.1:c.1237T>C	NP_001362268.1:p.Cys413Arg
NM_001375340.1:c.*80T>C	NP_001362269.1:n.*80T>C
NM_001375341.1:c.1243T>C	NP_001362270.1:p.Cys415Arg
NM_001375342.1:c.1219T>C	NP_001362271.1:p.Cys407Arg
NM_001375343.1:c.1342T>C	NP_001362272.1:p.Cys448Arg
NM_001375344.1:c.1285T>C	NP_001362273.1:p.Cys429Arg
NM_001375345.1:c.1156T>C	NP_001362274.1:p.Cys386Arg
NM_001375346.1:c.1180T>C	NP_001362275.1:p.Cys394Arg
NM_001375347.1:c.1159T>C	NP_001362276.1:p.Cys387Arg
NM_001375348.1:c.802T>C	NP_001362277.1:p.Cys268Arg
NM_001375349.1:c.937T>C	NP_001362278.1:p.Cys313Arg
NM_001375350.1:c.826T>C	NP_001362279.1:p.Cys276Arg
NM_198904.3:c.1246T>C	NP_944494.1:p.Cys416Arg
NM_198904.4:c.1246T>C MANE Select	NP_944494.1:p.Cys416Arg