Canonical Allele Identifier: CA447609964

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161530950G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103944G>C , CM000667.2:g.162103944G>C	GRCh38
NC_000005.9:g.161530950G>C , CM000667.1:g.161530950G>C	GRCh37
NC_000005.8:g.161463528G>C	NCBI36
NG_009290.1:g.41303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.649G>C
ENST00000361925.9:c.807G>C	ENSP00000354651.5:p.Val269=
ENST00000522053.2:n.578G>C
ENST00000523372.2:c.770G>C
ENST00000638552.1:c.402G>C	ENSP00000491763.1:p.Val134=
ENST00000638660.1:c.402G>C	ENSP00000492869.1:p.Val134=
ENST00000638772.1:c.687G>C	ENSP00000491557.1:p.Val229=
ENST00000638782.1:n.749G>C
ENST00000638877.1:c.564G>C
ENST00000639046.1:c.78G>C	ENSP00000492659.1:p.Val26=
ENST00000639111.2:c.687G>C	ENSP00000492125.2:p.Val229=
ENST00000639213.2:c.687G>C MANE Select	ENSP00000491909.2:p.Val229=
ENST00000639278.1:c.615G>C	ENSP00000491958.1:p.Val205=
ENST00000639384.1:c.687G>C	ENSP00000491240.1:p.Val229=
ENST00000639424.1:c.107+35838G>C	ENSP00000491245.1:n.107+35838G>C
ENST00000639683.1:c.621G>C	ENSP00000492581.1:p.Val207=
ENST00000639975.1:c.621G>C	ENSP00000492096.1:p.Val207=
ENST00000640574.1:c.402G>C	ENSP00000491582.1:p.Val134=
ENST00000640739.1:n.3218G>C
ENST00000640910.1:c.125G>C
ENST00000640985.1:c.600G>C	ENSP00000492293.1:p.Val200=
ENST00000641017.1:c.687G>C	ENSP00000493461.1:p.Val229=
ENST00000356592.7:c.687G>C	ENSP00000349000.3:p.Val229=
ENST00000361925.8:c.687G>C	ENSP00000354651.4:p.Val229=
ENST00000414552.6:c.807G>C	ENSP00000410732.2:p.Val269=
ENST00000522053.1:c.402G>C	ENSP00000430182.1:p.Val134=
ENST00000522990.5:c.*289G>C	ENSP00000430732.1:n.*289G>C
ENST00000523372.1:c.808G>C	ENSP00000430124.1:n.808G>C
NM_000816.3:c.687G>C	NP_000807.2:p.Val229=
NM_198903.2:c.807G>C	NP_944493.2:p.Val269=
NM_198904.2:c.687G>C	NP_944494.1:p.Val229=
NM_001375339.1:c.678G>C	NP_001362268.1:p.Val226=
NM_001375340.1:c.687G>C	NP_001362269.1:p.Val229=
NM_001375341.1:c.687G>C	NP_001362270.1:p.Val229=
NM_001375342.1:c.687G>C	NP_001362271.1:p.Val229=
NM_001375343.1:c.807G>C	NP_001362272.1:p.Val269=
NM_001375344.1:c.687G>C	NP_001362273.1:p.Val229=
NM_001375345.1:c.621G>C	NP_001362274.1:p.Val207=
NM_001375346.1:c.621G>C	NP_001362275.1:p.Val207=
NM_001375347.1:c.600G>C	NP_001362276.1:p.Val200=
NM_001375348.1:c.267G>C	NP_001362277.1:p.Val89=
NM_001375349.1:c.402G>C	NP_001362278.1:p.Val134=
NM_001375350.1:c.267G>C	NP_001362279.1:p.Val89=
NM_198904.3:c.687G>C	NP_944494.1:p.Val229=
NM_198904.4:c.687G>C MANE Select	NP_944494.1:p.Val229=