Canonical Allele Identifier: CA362184246

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580364T>A (hg19) ; chr5:g.162153358T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153358T>A , CM000667.2:g.162153358T>A	GRCh38
NC_000005.9:g.161580364T>A , CM000667.1:g.161580364T>A	GRCh37
NC_000005.8:g.161512942T>A	NCBI36
NG_009290.1:g.90717T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1419T>A
ENST00000361925.9:c.1514T>A	ENSP00000354651.5:p.Leu505His
ENST00000523372.2:c.1477T>A
ENST00000638253.1:n.672T>A
ENST00000638552.1:c.1109T>A	ENSP00000491763.1:p.Leu370His
ENST00000638660.1:c.1133T>A	ENSP00000492869.1:p.Leu378His
ENST00000638772.1:c.*4015T>A	ENSP00000491557.1:n.*4015T>A
ENST00000638877.1:c.1295T>A
ENST00000639046.1:c.785T>A	ENSP00000492659.1:p.Leu262His
ENST00000639111.2:c.1394T>A	ENSP00000492125.2:p.Leu465His
ENST00000639213.2:c.1418T>A MANE Select	ENSP00000491909.2:p.Leu473His
ENST00000639278.1:c.2081T>A	ENSP00000491958.1:n.2081T>A
ENST00000639384.1:c.*1599T>A	ENSP00000491240.1:n.*1599T>A
ENST00000639424.1:c.*618T>A	ENSP00000491245.1:n.*618T>A
ENST00000639683.1:c.1352T>A	ENSP00000492581.1:p.Leu451His
ENST00000639975.1:c.1328T>A	ENSP00000492096.1:p.Leu443His
ENST00000640500.1:n.692T>A
ENST00000640739.1:n.6365T>A
ENST00000640910.1:c.856T>A
ENST00000640985.1:c.1331T>A	ENSP00000492293.1:p.Leu444His
ENST00000641017.1:c.1487T>A	ENSP00000493461.1:p.Leu496His
ENST00000356592.7:c.1418T>A	ENSP00000349000.3:p.Leu473His
ENST00000361925.8:c.1394T>A	ENSP00000354651.4:p.Leu465His
ENST00000414552.6:c.1538T>A	ENSP00000410732.2:p.Leu513His
ENST00000522990.5:c.*996T>A	ENSP00000430732.1:n.*996T>A
ENST00000523372.1:c.1515T>A	ENSP00000430124.1:n.1515T>A
NM_000816.3:c.1394T>A	NP_000807.2:p.Leu465His
NM_198903.2:c.1538T>A	NP_944493.2:p.Leu513His
NM_198904.2:c.1418T>A	NP_944494.1:p.Leu473His
NM_001375339.1:c.1409T>A	NP_001362268.1:p.Leu470His
NM_001375340.1:c.*252T>A	NP_001362269.1:n.*252T>A
NM_001375341.1:c.1415T>A	NP_001362270.1:p.Leu472His
NM_001375342.1:c.1391T>A	NP_001362271.1:p.Leu464His
NM_001375343.1:c.1514T>A	NP_001362272.1:p.Leu505His
NM_001375344.1:c.1457T>A	NP_001362273.1:p.Leu486His
NM_001375345.1:c.1328T>A	NP_001362274.1:p.Leu443His
NM_001375346.1:c.1352T>A	NP_001362275.1:p.Leu451His
NM_001375347.1:c.1331T>A	NP_001362276.1:p.Leu444His
NM_001375348.1:c.974T>A	NP_001362277.1:p.Leu325His
NM_001375349.1:c.1109T>A	NP_001362278.1:p.Leu370His
NM_001375350.1:c.998T>A	NP_001362279.1:p.Leu333His
NM_198904.3:c.1418T>A	NP_944494.1:p.Leu473His
NM_198904.4:c.1418T>A MANE Select	NP_944494.1:p.Leu473His