Canonical Allele Identifier: CA362182446

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576186T>C (hg19) ; chr5:g.162149180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149180T>C , CM000667.2:g.162149180T>C	GRCh38
NC_000005.9:g.161576186T>C , CM000667.1:g.161576186T>C	GRCh37
NC_000005.8:g.161508764T>C	NCBI36
NG_009290.1:g.86539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.996T>C
ENST00000361925.9:c.1115T>C	ENSP00000354651.5:p.Val372Ala
ENST00000523372.2:c.1078T>C
ENST00000638253.1:n.249T>C
ENST00000638552.1:c.710T>C	ENSP00000491763.1:p.Val237Ala
ENST00000638660.1:c.710T>C	ENSP00000492869.1:p.Val237Ala
ENST00000638772.1:c.995T>C	ENSP00000491557.1:p.Val332Ala
ENST00000638877.1:c.872T>C
ENST00000639046.1:c.386T>C	ENSP00000492659.1:p.Val129Ala
ENST00000639111.2:c.995T>C	ENSP00000492125.2:p.Val332Ala
ENST00000639213.2:c.995T>C MANE Select	ENSP00000491909.2:p.Val332Ala
ENST00000639278.1:c.923T>C	ENSP00000491958.1:p.Val308Ala
ENST00000639384.1:c.995T>C	ENSP00000491240.1:p.Val332Ala
ENST00000639424.1:c.*195T>C	ENSP00000491245.1:n.*195T>C
ENST00000639683.1:c.929T>C	ENSP00000492581.1:p.Val310Ala
ENST00000639975.1:c.929T>C	ENSP00000492096.1:p.Val310Ala
ENST00000640500.1:n.293T>C
ENST00000640574.1:c.710T>C	ENSP00000491582.1:p.Val237Ala
ENST00000640739.1:n.3526T>C
ENST00000640910.1:c.433T>C
ENST00000640985.1:c.908T>C	ENSP00000492293.1:p.Val303Ala
ENST00000641017.1:c.995T>C	ENSP00000493461.1:p.Val332Ala
ENST00000356592.7:c.995T>C	ENSP00000349000.3:p.Val332Ala
ENST00000361925.8:c.995T>C	ENSP00000354651.4:p.Val332Ala
ENST00000414552.6:c.1115T>C	ENSP00000410732.2:p.Val372Ala
ENST00000522990.5:c.*597T>C	ENSP00000430732.1:n.*597T>C
ENST00000523372.1:c.1116T>C	ENSP00000430124.1:n.1116T>C
NM_000816.3:c.995T>C	NP_000807.2:p.Val332Ala
NM_198903.2:c.1115T>C	NP_944493.2:p.Val372Ala
NM_198904.2:c.995T>C	NP_944494.1:p.Val332Ala
NM_001375339.1:c.986T>C	NP_001362268.1:p.Val329Ala
NM_001375340.1:c.923-2550T>C	NP_001362269.1:n.923-2550T>C
NM_001375341.1:c.992T>C	NP_001362270.1:p.Val331Ala
NM_001375342.1:c.992T>C	NP_001362271.1:p.Val331Ala
NM_001375343.1:c.1115T>C	NP_001362272.1:p.Val372Ala
NM_001375344.1:c.1034T>C	NP_001362273.1:p.Val345Ala
NM_001375345.1:c.929T>C	NP_001362274.1:p.Val310Ala
NM_001375346.1:c.929T>C	NP_001362275.1:p.Val310Ala
NM_001375347.1:c.908T>C	NP_001362276.1:p.Val303Ala
NM_001375348.1:c.575T>C	NP_001362277.1:p.Val192Ala
NM_001375349.1:c.710T>C	NP_001362278.1:p.Val237Ala
NM_001375350.1:c.575T>C	NP_001362279.1:p.Val192Ala
NM_198904.3:c.995T>C	NP_944494.1:p.Val332Ala
NM_198904.4:c.995T>C MANE Select	NP_944494.1:p.Val332Ala