Canonical Allele Identifier: CA362185180

Gene: GABRG2

Linked Data

• dbSNP Id: rs1449910263
• gnomAD v2: 5-161530991-T-C
• gnomAD v4: 5-162103985-T-C
• MyVariant Identifiers: chr5:g.161530991T>C (hg19) ; chr5:g.162103985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162103985T>C , CM000667.2:g.162103985T>C	GRCh38
NC_000005.9:g.161530991T>C , CM000667.1:g.161530991T>C	GRCh37
NC_000005.8:g.161463569T>C	NCBI36
NG_009290.1:g.41344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.690T>C
ENST00000361925.9:c.848T>C	ENSP00000354651.5:p.Val283Ala
ENST00000522053.2:n.619T>C
ENST00000523372.2:c.811T>C
ENST00000638552.1:c.443T>C	ENSP00000491763.1:p.Val148Ala
ENST00000638660.1:c.443T>C	ENSP00000492869.1:p.Val148Ala
ENST00000638772.1:c.728T>C	ENSP00000491557.1:p.Val243Ala
ENST00000638782.1:n.790T>C
ENST00000638877.1:c.605T>C
ENST00000639046.1:c.119T>C	ENSP00000492659.1:p.Val40Ala
ENST00000639111.2:c.728T>C	ENSP00000492125.2:p.Val243Ala
ENST00000639213.2:c.728T>C MANE Select	ENSP00000491909.2:p.Val243Ala
ENST00000639278.1:c.656T>C	ENSP00000491958.1:p.Val219Ala
ENST00000639384.1:c.728T>C	ENSP00000491240.1:p.Val243Ala
ENST00000639424.1:c.107+35879T>C	ENSP00000491245.1:n.107+35879T>C
ENST00000639683.1:c.662T>C	ENSP00000492581.1:p.Val221Ala
ENST00000639975.1:c.662T>C	ENSP00000492096.1:p.Val221Ala
ENST00000640574.1:c.443T>C	ENSP00000491582.1:p.Val148Ala
ENST00000640739.1:n.3259T>C
ENST00000640910.1:c.166T>C
ENST00000640985.1:c.641T>C	ENSP00000492293.1:p.Val214Ala
ENST00000641017.1:c.728T>C	ENSP00000493461.1:p.Val243Ala
ENST00000356592.7:c.728T>C	ENSP00000349000.3:p.Val243Ala
ENST00000361925.8:c.728T>C	ENSP00000354651.4:p.Val243Ala
ENST00000414552.6:c.848T>C	ENSP00000410732.2:p.Val283Ala
ENST00000522053.1:c.443T>C	ENSP00000430182.1:p.Val148Ala
ENST00000522990.5:c.*330T>C	ENSP00000430732.1:n.*330T>C
ENST00000523372.1:c.849T>C	ENSP00000430124.1:n.849T>C
NM_000816.3:c.728T>C	NP_000807.2:p.Val243Ala
NM_198903.2:c.848T>C	NP_944493.2:p.Val283Ala
NM_198904.2:c.728T>C	NP_944494.1:p.Val243Ala
NM_001375339.1:c.719T>C	NP_001362268.1:p.Val240Ala
NM_001375340.1:c.728T>C	NP_001362269.1:p.Val243Ala
NM_001375341.1:c.728T>C	NP_001362270.1:p.Val243Ala
NM_001375342.1:c.728T>C	NP_001362271.1:p.Val243Ala
NM_001375343.1:c.848T>C	NP_001362272.1:p.Val283Ala
NM_001375344.1:c.728T>C	NP_001362273.1:p.Val243Ala
NM_001375345.1:c.662T>C	NP_001362274.1:p.Val221Ala
NM_001375346.1:c.662T>C	NP_001362275.1:p.Val221Ala
NM_001375347.1:c.641T>C	NP_001362276.1:p.Val214Ala
NM_001375348.1:c.308T>C	NP_001362277.1:p.Val103Ala
NM_001375349.1:c.443T>C	NP_001362278.1:p.Val148Ala
NM_001375350.1:c.308T>C	NP_001362279.1:p.Val103Ala
NM_198904.3:c.728T>C	NP_944494.1:p.Val243Ala
NM_198904.4:c.728T>C MANE Select	NP_944494.1:p.Val243Ala