Canonical Allele Identifier: CA362182542

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 2949442
• ClinVar RCV Id: RCV003804608
• MyVariant Identifiers: chr5:g.161576228T>G (hg19) ; chr5:g.162149222T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149222T>G , CM000667.2:g.162149222T>G	GRCh38
NC_000005.9:g.161576228T>G , CM000667.1:g.161576228T>G	GRCh37
NC_000005.8:g.161508806T>G	NCBI36
NG_009290.1:g.86581T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1038T>G
ENST00000361925.9:c.1157T>G	ENSP00000354651.5:p.Val386Gly
ENST00000523372.2:c.1120T>G
ENST00000638253.1:n.291T>G
ENST00000638552.1:c.752T>G	ENSP00000491763.1:p.Val251Gly
ENST00000638660.1:c.752T>G	ENSP00000492869.1:p.Val251Gly
ENST00000638772.1:c.1037T>G	ENSP00000491557.1:p.Val346Gly
ENST00000638877.1:c.914T>G
ENST00000639046.1:c.428T>G	ENSP00000492659.1:p.Val143Gly
ENST00000639111.2:c.1037T>G	ENSP00000492125.2:p.Val346Gly
ENST00000639213.2:c.1037T>G MANE Select	ENSP00000491909.2:p.Val346Gly
ENST00000639278.1:c.965T>G	ENSP00000491958.1:p.Val322Gly
ENST00000639384.1:c.1037T>G	ENSP00000491240.1:p.Val346Gly
ENST00000639424.1:c.*237T>G	ENSP00000491245.1:n.*237T>G
ENST00000639683.1:c.971T>G	ENSP00000492581.1:p.Val324Gly
ENST00000639975.1:c.971T>G	ENSP00000492096.1:p.Val324Gly
ENST00000640500.1:n.335T>G
ENST00000640574.1:c.752T>G	ENSP00000491582.1:p.Val251Gly
ENST00000640739.1:n.3568T>G
ENST00000640910.1:c.475T>G
ENST00000640985.1:c.950T>G	ENSP00000492293.1:p.Val317Gly
ENST00000641017.1:c.1037T>G	ENSP00000493461.1:p.Val346Gly
ENST00000356592.7:c.1037T>G	ENSP00000349000.3:p.Val346Gly
ENST00000361925.8:c.1037T>G	ENSP00000354651.4:p.Val346Gly
ENST00000414552.6:c.1157T>G	ENSP00000410732.2:p.Val386Gly
ENST00000522990.5:c.*639T>G	ENSP00000430732.1:n.*639T>G
ENST00000523372.1:c.1158T>G	ENSP00000430124.1:n.1158T>G
NM_000816.3:c.1037T>G	NP_000807.2:p.Val346Gly
NM_198903.2:c.1157T>G	NP_944493.2:p.Val386Gly
NM_198904.2:c.1037T>G	NP_944494.1:p.Val346Gly
NM_001375339.1:c.1028T>G	NP_001362268.1:p.Val343Gly
NM_001375340.1:c.923-2508T>G	NP_001362269.1:n.923-2508T>G
NM_001375341.1:c.1034T>G	NP_001362270.1:p.Val345Gly
NM_001375342.1:c.1034T>G	NP_001362271.1:p.Val345Gly
NM_001375343.1:c.1157T>G	NP_001362272.1:p.Val386Gly
NM_001375344.1:c.1076T>G	NP_001362273.1:p.Val359Gly
NM_001375345.1:c.971T>G	NP_001362274.1:p.Val324Gly
NM_001375346.1:c.971T>G	NP_001362275.1:p.Val324Gly
NM_001375347.1:c.950T>G	NP_001362276.1:p.Val317Gly
NM_001375348.1:c.617T>G	NP_001362277.1:p.Val206Gly
NM_001375349.1:c.752T>G	NP_001362278.1:p.Val251Gly
NM_001375350.1:c.617T>G	NP_001362279.1:p.Val206Gly
NM_198904.3:c.1037T>G	NP_944494.1:p.Val346Gly
NM_198904.4:c.1037T>G MANE Select	NP_944494.1:p.Val346Gly