Canonical Allele Identifier: CA362184151

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2940186
• ClinVar RCV Id: RCV003797544
• MyVariant Identifiers: chr5:g.161580346T>G (hg19) ; chr5:g.162153340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153340T>G , CM000667.2:g.162153340T>G	GRCh38
NC_000005.9:g.161580346T>G , CM000667.1:g.161580346T>G	GRCh37
NC_000005.8:g.161512924T>G	NCBI36
NG_009290.1:g.90699T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1401T>G
ENST00000361925.9:c.1496T>G	ENSP00000354651.5:p.Val499Gly
ENST00000523372.2:c.1459T>G
ENST00000638253.1:n.654T>G
ENST00000638552.1:c.1091T>G	ENSP00000491763.1:p.Val364Gly
ENST00000638660.1:c.1115T>G	ENSP00000492869.1:p.Val372Gly
ENST00000638772.1:c.*3997T>G	ENSP00000491557.1:n.*3997T>G
ENST00000638877.1:c.1277T>G
ENST00000639046.1:c.767T>G	ENSP00000492659.1:p.Val256Gly
ENST00000639111.2:c.1376T>G	ENSP00000492125.2:p.Val459Gly
ENST00000639213.2:c.1400T>G MANE Select	ENSP00000491909.2:p.Val467Gly
ENST00000639278.1:c.2063T>G	ENSP00000491958.1:n.2063T>G
ENST00000639384.1:c.*1581T>G	ENSP00000491240.1:n.*1581T>G
ENST00000639424.1:c.*600T>G	ENSP00000491245.1:n.*600T>G
ENST00000639683.1:c.1334T>G	ENSP00000492581.1:p.Val445Gly
ENST00000639975.1:c.1310T>G	ENSP00000492096.1:p.Val437Gly
ENST00000640500.1:n.674T>G
ENST00000640739.1:n.6347T>G
ENST00000640910.1:c.838T>G
ENST00000640985.1:c.1313T>G	ENSP00000492293.1:p.Val438Gly
ENST00000641017.1:c.1469T>G	ENSP00000493461.1:p.Val490Gly
ENST00000356592.7:c.1400T>G	ENSP00000349000.3:p.Val467Gly
ENST00000361925.8:c.1376T>G	ENSP00000354651.4:p.Val459Gly
ENST00000414552.6:c.1520T>G	ENSP00000410732.2:p.Val507Gly
ENST00000522990.5:c.*978T>G	ENSP00000430732.1:n.*978T>G
ENST00000523372.1:c.1497T>G	ENSP00000430124.1:n.1497T>G
NM_000816.3:c.1376T>G	NP_000807.2:p.Val459Gly
NM_198903.2:c.1520T>G	NP_944493.2:p.Val507Gly
NM_198904.2:c.1400T>G	NP_944494.1:p.Val467Gly
NM_001375339.1:c.1391T>G	NP_001362268.1:p.Val464Gly
NM_001375340.1:c.*234T>G	NP_001362269.1:n.*234T>G
NM_001375341.1:c.1397T>G	NP_001362270.1:p.Val466Gly
NM_001375342.1:c.1373T>G	NP_001362271.1:p.Val458Gly
NM_001375343.1:c.1496T>G	NP_001362272.1:p.Val499Gly
NM_001375344.1:c.1439T>G	NP_001362273.1:p.Val480Gly
NM_001375345.1:c.1310T>G	NP_001362274.1:p.Val437Gly
NM_001375346.1:c.1334T>G	NP_001362275.1:p.Val445Gly
NM_001375347.1:c.1313T>G	NP_001362276.1:p.Val438Gly
NM_001375348.1:c.956T>G	NP_001362277.1:p.Val319Gly
NM_001375349.1:c.1091T>G	NP_001362278.1:p.Val364Gly
NM_001375350.1:c.980T>G	NP_001362279.1:p.Val327Gly
NM_198904.3:c.1400T>G	NP_944494.1:p.Val467Gly
NM_198904.4:c.1400T>G MANE Select	NP_944494.1:p.Val467Gly