Canonical Allele Identifier: CA362184250

Gene: GABRG2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1419T>G
ENST00000361925.9:c.1514T>G	ENSP00000354651.5:p.Leu505Arg
ENST00000523372.2:c.1477T>G
ENST00000638253.1:n.672T>G
ENST00000638552.1:c.1109T>G	ENSP00000491763.1:p.Leu370Arg
ENST00000638660.1:c.1133T>G	ENSP00000492869.1:p.Leu378Arg
ENST00000638772.1:c.*4015T>G	ENSP00000491557.1:n.*4015T>G
ENST00000638877.1:c.1295T>G
ENST00000639046.1:c.785T>G	ENSP00000492659.1:p.Leu262Arg
ENST00000639111.2:c.1394T>G	ENSP00000492125.2:p.Leu465Arg
ENST00000639213.2:c.1418T>G MANE Select	ENSP00000491909.2:p.Leu473Arg
ENST00000639278.1:c.2081T>G	ENSP00000491958.1:n.2081T>G
ENST00000639384.1:c.*1599T>G	ENSP00000491240.1:n.*1599T>G
ENST00000639424.1:c.*618T>G	ENSP00000491245.1:n.*618T>G
ENST00000639683.1:c.1352T>G	ENSP00000492581.1:p.Leu451Arg
ENST00000639975.1:c.1328T>G	ENSP00000492096.1:p.Leu443Arg
ENST00000640500.1:n.692T>G
ENST00000640739.1:n.6365T>G
ENST00000640910.1:c.856T>G
ENST00000640985.1:c.1331T>G	ENSP00000492293.1:p.Leu444Arg
ENST00000641017.1:c.1487T>G	ENSP00000493461.1:p.Leu496Arg
ENST00000356592.7:c.1418T>G	ENSP00000349000.3:p.Leu473Arg
ENST00000361925.8:c.1394T>G	ENSP00000354651.4:p.Leu465Arg
ENST00000414552.6:c.1538T>G	ENSP00000410732.2:p.Leu513Arg
ENST00000522990.5:c.*996T>G	ENSP00000430732.1:n.*996T>G
ENST00000523372.1:c.1515T>G	ENSP00000430124.1:n.1515T>G
NM_000816.3:c.1394T>G	NP_000807.2:p.Leu465Arg
NM_198903.2:c.1538T>G	NP_944493.2:p.Leu513Arg
NM_198904.2:c.1418T>G	NP_944494.1:p.Leu473Arg
NM_001375339.1:c.1409T>G	NP_001362268.1:p.Leu470Arg
NM_001375340.1:c.*252T>G	NP_001362269.1:n.*252T>G
NM_001375341.1:c.1415T>G	NP_001362270.1:p.Leu472Arg
NM_001375342.1:c.1391T>G	NP_001362271.1:p.Leu464Arg
NM_001375343.1:c.1514T>G	NP_001362272.1:p.Leu505Arg
NM_001375344.1:c.1457T>G	NP_001362273.1:p.Leu486Arg
NM_001375345.1:c.1328T>G	NP_001362274.1:p.Leu443Arg
NM_001375346.1:c.1352T>G	NP_001362275.1:p.Leu451Arg
NM_001375347.1:c.1331T>G	NP_001362276.1:p.Leu444Arg
NM_001375348.1:c.974T>G	NP_001362277.1:p.Leu325Arg
NM_001375349.1:c.1109T>G	NP_001362278.1:p.Leu370Arg
NM_001375350.1:c.998T>G	NP_001362279.1:p.Leu333Arg
NM_198904.3:c.1418T>G	NP_944494.1:p.Leu473Arg
NM_198904.4:c.1418T>G MANE Select	NP_944494.1:p.Leu473Arg