Canonical Allele Identifier: CA447610273

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576184T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149178T>C , CM000667.2:g.162149178T>C	GRCh38
NC_000005.9:g.161576184T>C , CM000667.1:g.161576184T>C	GRCh37
NC_000005.8:g.161508762T>C	NCBI36
NG_009290.1:g.86537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.994T>C
ENST00000361925.9:c.1113T>C	ENSP00000354651.5:p.Tyr371=
ENST00000523372.2:c.1076T>C
ENST00000638253.1:n.247T>C
ENST00000638552.1:c.708T>C	ENSP00000491763.1:p.Tyr236=
ENST00000638660.1:c.708T>C	ENSP00000492869.1:p.Tyr236=
ENST00000638772.1:c.993T>C	ENSP00000491557.1:p.Tyr331=
ENST00000638877.1:c.870T>C
ENST00000639046.1:c.384T>C	ENSP00000492659.1:p.Tyr128=
ENST00000639111.2:c.993T>C	ENSP00000492125.2:p.Tyr331=
ENST00000639213.2:c.993T>C MANE Select	ENSP00000491909.2:p.Tyr331=
ENST00000639278.1:c.921T>C	ENSP00000491958.1:p.Tyr307=
ENST00000639384.1:c.993T>C	ENSP00000491240.1:p.Tyr331=
ENST00000639424.1:c.*193T>C	ENSP00000491245.1:n.*193T>C
ENST00000639683.1:c.927T>C	ENSP00000492581.1:p.Tyr309=
ENST00000639975.1:c.927T>C	ENSP00000492096.1:p.Tyr309=
ENST00000640500.1:n.291T>C
ENST00000640574.1:c.708T>C	ENSP00000491582.1:p.Tyr236=
ENST00000640739.1:n.3524T>C
ENST00000640910.1:c.431T>C
ENST00000640985.1:c.906T>C	ENSP00000492293.1:p.Tyr302=
ENST00000641017.1:c.993T>C	ENSP00000493461.1:p.Tyr331=
ENST00000356592.7:c.993T>C	ENSP00000349000.3:p.Tyr331=
ENST00000361925.8:c.993T>C	ENSP00000354651.4:p.Tyr331=
ENST00000414552.6:c.1113T>C	ENSP00000410732.2:p.Tyr371=
ENST00000522990.5:c.*595T>C	ENSP00000430732.1:n.*595T>C
ENST00000523372.1:c.1114T>C	ENSP00000430124.1:n.1114T>C
NM_000816.3:c.993T>C	NP_000807.2:p.Tyr331=
NM_198903.2:c.1113T>C	NP_944493.2:p.Tyr371=
NM_198904.2:c.993T>C	NP_944494.1:p.Tyr331=
NM_001375339.1:c.984T>C	NP_001362268.1:p.Tyr328=
NM_001375340.1:c.923-2552T>C	NP_001362269.1:n.923-2552T>C
NM_001375341.1:c.990T>C	NP_001362270.1:p.Tyr330=
NM_001375342.1:c.990T>C	NP_001362271.1:p.Tyr330=
NM_001375343.1:c.1113T>C	NP_001362272.1:p.Tyr371=
NM_001375344.1:c.1032T>C	NP_001362273.1:p.Tyr344=
NM_001375345.1:c.927T>C	NP_001362274.1:p.Tyr309=
NM_001375346.1:c.927T>C	NP_001362275.1:p.Tyr309=
NM_001375347.1:c.906T>C	NP_001362276.1:p.Tyr302=
NM_001375348.1:c.573T>C	NP_001362277.1:p.Tyr191=
NM_001375349.1:c.708T>C	NP_001362278.1:p.Tyr236=
NM_001375350.1:c.573T>C	NP_001362279.1:p.Tyr191=
NM_198904.3:c.993T>C	NP_944494.1:p.Tyr331=
NM_198904.4:c.993T>C MANE Select	NP_944494.1:p.Tyr331=