Canonical Allele Identifier: CA362183689

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580240T>C (hg19) ; chr5:g.162153234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153234T>C , CM000667.2:g.162153234T>C	GRCh38
NC_000005.9:g.161580240T>C , CM000667.1:g.161580240T>C	GRCh37
NC_000005.8:g.161512818T>C	NCBI36
NG_009290.1:g.90593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1295T>C
ENST00000361925.9:c.1390T>C	ENSP00000354651.5:p.Cys464Arg
ENST00000523372.2:c.1353T>C
ENST00000638253.1:n.548T>C
ENST00000638552.1:c.985T>C	ENSP00000491763.1:p.Cys329Arg
ENST00000638660.1:c.1009T>C	ENSP00000492869.1:p.Cys337Arg
ENST00000638772.1:c.*3891T>C	ENSP00000491557.1:n.*3891T>C
ENST00000638877.1:c.1171T>C
ENST00000639046.1:c.661T>C	ENSP00000492659.1:p.Cys221Arg
ENST00000639111.2:c.1270T>C	ENSP00000492125.2:p.Cys424Arg
ENST00000639213.2:c.1294T>C MANE Select	ENSP00000491909.2:p.Cys432Arg
ENST00000639278.1:c.1957T>C	ENSP00000491958.1:n.1957T>C
ENST00000639384.1:c.*1475T>C	ENSP00000491240.1:n.*1475T>C
ENST00000639424.1:c.*494T>C	ENSP00000491245.1:n.*494T>C
ENST00000639683.1:c.1228T>C	ENSP00000492581.1:p.Cys410Arg
ENST00000639975.1:c.1204T>C	ENSP00000492096.1:p.Cys402Arg
ENST00000640500.1:n.568T>C
ENST00000640739.1:n.6241T>C
ENST00000640910.1:c.732T>C
ENST00000640985.1:c.1207T>C	ENSP00000492293.1:p.Cys403Arg
ENST00000641017.1:c.1363T>C	ENSP00000493461.1:p.Cys455Arg
ENST00000356592.7:c.1294T>C	ENSP00000349000.3:p.Cys432Arg
ENST00000361925.8:c.1270T>C	ENSP00000354651.4:p.Cys424Arg
ENST00000414552.6:c.1414T>C	ENSP00000410732.2:p.Cys472Arg
ENST00000522990.5:c.*872T>C	ENSP00000430732.1:n.*872T>C
ENST00000523372.1:c.1391T>C	ENSP00000430124.1:n.1391T>C
NM_000816.3:c.1270T>C	NP_000807.2:p.Cys424Arg
NM_198903.2:c.1414T>C	NP_944493.2:p.Cys472Arg
NM_198904.2:c.1294T>C	NP_944494.1:p.Cys432Arg
NM_001375339.1:c.1285T>C	NP_001362268.1:p.Cys429Arg
NM_001375340.1:c.*128T>C	NP_001362269.1:n.*128T>C
NM_001375341.1:c.1291T>C	NP_001362270.1:p.Cys431Arg
NM_001375342.1:c.1267T>C	NP_001362271.1:p.Cys423Arg
NM_001375343.1:c.1390T>C	NP_001362272.1:p.Cys464Arg
NM_001375344.1:c.1333T>C	NP_001362273.1:p.Cys445Arg
NM_001375345.1:c.1204T>C	NP_001362274.1:p.Cys402Arg
NM_001375346.1:c.1228T>C	NP_001362275.1:p.Cys410Arg
NM_001375347.1:c.1207T>C	NP_001362276.1:p.Cys403Arg
NM_001375348.1:c.850T>C	NP_001362277.1:p.Cys284Arg
NM_001375349.1:c.985T>C	NP_001362278.1:p.Cys329Arg
NM_001375350.1:c.874T>C	NP_001362279.1:p.Cys292Arg
NM_198904.3:c.1294T>C	NP_944494.1:p.Cys432Arg
NM_198904.4:c.1294T>C MANE Select	NP_944494.1:p.Cys432Arg