Canonical Allele Identifier: CA362182473

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2954515
• ClinVar RCV Id: RCV003815714
• MyVariant Identifiers: chr5:g.161576199T>A (hg19) ; chr5:g.162149193T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149193T>A , CM000667.2:g.162149193T>A	GRCh38
NC_000005.9:g.161576199T>A , CM000667.1:g.161576199T>A	GRCh37
NC_000005.8:g.161508777T>A	NCBI36
NG_009290.1:g.86552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1009T>A
ENST00000361925.9:c.1128T>A	ENSP00000354651.5:p.Asp376Glu
ENST00000523372.2:c.1091T>A
ENST00000638253.1:n.262T>A
ENST00000638552.1:c.723T>A	ENSP00000491763.1:p.Asp241Glu
ENST00000638660.1:c.723T>A	ENSP00000492869.1:p.Asp241Glu
ENST00000638772.1:c.1008T>A	ENSP00000491557.1:p.Asp336Glu
ENST00000638877.1:c.885T>A
ENST00000639046.1:c.399T>A	ENSP00000492659.1:p.Asp133Glu
ENST00000639111.2:c.1008T>A	ENSP00000492125.2:p.Asp336Glu
ENST00000639213.2:c.1008T>A MANE Select	ENSP00000491909.2:p.Asp336Glu
ENST00000639278.1:c.936T>A	ENSP00000491958.1:p.Asp312Glu
ENST00000639384.1:c.1008T>A	ENSP00000491240.1:p.Asp336Glu
ENST00000639424.1:c.*208T>A	ENSP00000491245.1:n.*208T>A
ENST00000639683.1:c.942T>A	ENSP00000492581.1:p.Asp314Glu
ENST00000639975.1:c.942T>A	ENSP00000492096.1:p.Asp314Glu
ENST00000640500.1:n.306T>A
ENST00000640574.1:c.723T>A	ENSP00000491582.1:p.Asp241Glu
ENST00000640739.1:n.3539T>A
ENST00000640910.1:c.446T>A
ENST00000640985.1:c.921T>A	ENSP00000492293.1:p.Asp307Glu
ENST00000641017.1:c.1008T>A	ENSP00000493461.1:p.Asp336Glu
ENST00000356592.7:c.1008T>A	ENSP00000349000.3:p.Asp336Glu
ENST00000361925.8:c.1008T>A	ENSP00000354651.4:p.Asp336Glu
ENST00000414552.6:c.1128T>A	ENSP00000410732.2:p.Asp376Glu
ENST00000522990.5:c.*610T>A	ENSP00000430732.1:n.*610T>A
ENST00000523372.1:c.1129T>A	ENSP00000430124.1:n.1129T>A
NM_000816.3:c.1008T>A	NP_000807.2:p.Asp336Glu
NM_198903.2:c.1128T>A	NP_944493.2:p.Asp376Glu
NM_198904.2:c.1008T>A	NP_944494.1:p.Asp336Glu
NM_001375339.1:c.999T>A	NP_001362268.1:p.Asp333Glu
NM_001375340.1:c.923-2537T>A	NP_001362269.1:n.923-2537T>A
NM_001375341.1:c.1005T>A	NP_001362270.1:p.Asp335Glu
NM_001375342.1:c.1005T>A	NP_001362271.1:p.Asp335Glu
NM_001375343.1:c.1128T>A	NP_001362272.1:p.Asp376Glu
NM_001375344.1:c.1047T>A	NP_001362273.1:p.Asp349Glu
NM_001375345.1:c.942T>A	NP_001362274.1:p.Asp314Glu
NM_001375346.1:c.942T>A	NP_001362275.1:p.Asp314Glu
NM_001375347.1:c.921T>A	NP_001362276.1:p.Asp307Glu
NM_001375348.1:c.588T>A	NP_001362277.1:p.Asp196Glu
NM_001375349.1:c.723T>A	NP_001362278.1:p.Asp241Glu
NM_001375350.1:c.588T>A	NP_001362279.1:p.Asp196Glu
NM_198904.3:c.1008T>A	NP_944494.1:p.Asp336Glu
NM_198904.4:c.1008T>A MANE Select	NP_944494.1:p.Asp336Glu