Canonical Allele Identifier: CA362182323

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1347728
• ClinVar RCV Id: RCV002043963
• dbSNP Id: rs2113632536
• MyVariant Identifiers: chr5:g.161576128C>A (hg19) ; chr5:g.162149122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149122C>A , CM000667.2:g.162149122C>A	GRCh38
NC_000005.9:g.161576128C>A , CM000667.1:g.161576128C>A	GRCh37
NC_000005.8:g.161508706C>A	NCBI36
NG_009290.1:g.86481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.938C>A
ENST00000361925.9:c.1057C>A	ENSP00000354651.5:p.Leu353Met
ENST00000522053.2:n.828C>A
ENST00000523372.2:c.1020C>A
ENST00000638253.1:n.191C>A
ENST00000638552.1:c.652C>A	ENSP00000491763.1:p.Leu218Met
ENST00000638660.1:c.652C>A	ENSP00000492869.1:p.Leu218Met
ENST00000638772.1:c.937C>A	ENSP00000491557.1:p.Leu313Met
ENST00000638877.1:c.814C>A
ENST00000639046.1:c.328C>A	ENSP00000492659.1:p.Leu110Met
ENST00000639111.2:c.937C>A	ENSP00000492125.2:p.Leu313Met
ENST00000639213.2:c.937C>A MANE Select	ENSP00000491909.2:p.Leu313Met
ENST00000639278.1:c.865C>A	ENSP00000491958.1:p.Leu289Met
ENST00000639384.1:c.937C>A	ENSP00000491240.1:p.Leu313Met
ENST00000639424.1:c.*137C>A	ENSP00000491245.1:n.*137C>A
ENST00000639683.1:c.871C>A	ENSP00000492581.1:p.Leu291Met
ENST00000639975.1:c.871C>A	ENSP00000492096.1:p.Leu291Met
ENST00000640500.1:n.235C>A
ENST00000640574.1:c.652C>A	ENSP00000491582.1:p.Leu218Met
ENST00000640739.1:n.3468C>A
ENST00000640910.1:c.375C>A
ENST00000640985.1:c.850C>A	ENSP00000492293.1:p.Leu284Met
ENST00000641017.1:c.937C>A	ENSP00000493461.1:p.Leu313Met
ENST00000356592.7:c.937C>A	ENSP00000349000.3:p.Leu313Met
ENST00000361925.8:c.937C>A	ENSP00000354651.4:p.Leu313Met
ENST00000414552.6:c.1057C>A	ENSP00000410732.2:p.Leu353Met
ENST00000522053.1:c.652C>A	ENSP00000430182.1:p.Leu218Met
ENST00000522990.5:c.*539C>A	ENSP00000430732.1:n.*539C>A
ENST00000523372.1:c.1058C>A	ENSP00000430124.1:n.1058C>A
NM_000816.3:c.937C>A	NP_000807.2:p.Leu313Met
NM_198903.2:c.1057C>A	NP_944493.2:p.Leu353Met
NM_198904.2:c.937C>A	NP_944494.1:p.Leu313Met
NM_001375339.1:c.928C>A	NP_001362268.1:p.Leu310Met
NM_001375340.1:c.923-2608C>A	NP_001362269.1:n.923-2608C>A
NM_001375341.1:c.934C>A	NP_001362270.1:p.Leu312Met
NM_001375342.1:c.934C>A	NP_001362271.1:p.Leu312Met
NM_001375343.1:c.1057C>A	NP_001362272.1:p.Leu353Met
NM_001375344.1:c.976C>A	NP_001362273.1:p.Leu326Met
NM_001375345.1:c.871C>A	NP_001362274.1:p.Leu291Met
NM_001375346.1:c.871C>A	NP_001362275.1:p.Leu291Met
NM_001375347.1:c.850C>A	NP_001362276.1:p.Leu284Met
NM_001375348.1:c.517C>A	NP_001362277.1:p.Leu173Met
NM_001375349.1:c.652C>A	NP_001362278.1:p.Leu218Met
NM_001375350.1:c.517C>A	NP_001362279.1:p.Leu173Met
NM_198904.3:c.937C>A	NP_944494.1:p.Leu313Met
NM_198904.4:c.937C>A MANE Select	NP_944494.1:p.Leu313Met