Canonical Allele Identifier: CA362184272

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580370T>A (hg19) ; chr5:g.162153364T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153364T>A , CM000667.2:g.162153364T>A	GRCh38
NC_000005.9:g.161580370T>A , CM000667.1:g.161580370T>A	GRCh37
NC_000005.8:g.161512948T>A	NCBI36
NG_009290.1:g.90723T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1425T>A
ENST00000361925.9:c.1520T>A	ENSP00000354651.5:p.Leu507Gln
ENST00000523372.2:c.1483T>A
ENST00000638253.1:n.678T>A
ENST00000638552.1:c.1115T>A	ENSP00000491763.1:p.Leu372Gln
ENST00000638660.1:c.1139T>A	ENSP00000492869.1:p.Leu380Gln
ENST00000638772.1:c.*4021T>A	ENSP00000491557.1:n.*4021T>A
ENST00000638877.1:c.1301T>A
ENST00000639046.1:c.791T>A	ENSP00000492659.1:p.Leu264Gln
ENST00000639111.2:c.1400T>A	ENSP00000492125.2:p.Leu467Gln
ENST00000639213.2:c.1424T>A MANE Select	ENSP00000491909.2:p.Leu475Gln
ENST00000639278.1:c.2087T>A	ENSP00000491958.1:n.2087T>A
ENST00000639384.1:c.*1605T>A	ENSP00000491240.1:n.*1605T>A
ENST00000639424.1:c.*624T>A	ENSP00000491245.1:n.*624T>A
ENST00000639683.1:c.1358T>A	ENSP00000492581.1:p.Leu453Gln
ENST00000639975.1:c.1334T>A	ENSP00000492096.1:p.Leu445Gln
ENST00000640500.1:n.698T>A
ENST00000640739.1:n.6371T>A
ENST00000640910.1:c.862T>A
ENST00000640985.1:c.1337T>A	ENSP00000492293.1:p.Leu446Gln
ENST00000641017.1:c.1493T>A	ENSP00000493461.1:p.Leu498Gln
ENST00000356592.7:c.1424T>A	ENSP00000349000.3:p.Leu475Gln
ENST00000361925.8:c.1400T>A	ENSP00000354651.4:p.Leu467Gln
ENST00000414552.6:c.1544T>A	ENSP00000410732.2:p.Leu515Gln
ENST00000522990.5:c.*1002T>A	ENSP00000430732.1:n.*1002T>A
ENST00000523372.1:c.1521T>A	ENSP00000430124.1:n.1521T>A
NM_000816.3:c.1400T>A	NP_000807.2:p.Leu467Gln
NM_198903.2:c.1544T>A	NP_944493.2:p.Leu515Gln
NM_198904.2:c.1424T>A	NP_944494.1:p.Leu475Gln
NM_001375339.1:c.1415T>A	NP_001362268.1:p.Leu472Gln
NM_001375340.1:c.*258T>A	NP_001362269.1:n.*258T>A
NM_001375341.1:c.1421T>A	NP_001362270.1:p.Leu474Gln
NM_001375342.1:c.1397T>A	NP_001362271.1:p.Leu466Gln
NM_001375343.1:c.1520T>A	NP_001362272.1:p.Leu507Gln
NM_001375344.1:c.1463T>A	NP_001362273.1:p.Leu488Gln
NM_001375345.1:c.1334T>A	NP_001362274.1:p.Leu445Gln
NM_001375346.1:c.1358T>A	NP_001362275.1:p.Leu453Gln
NM_001375347.1:c.1337T>A	NP_001362276.1:p.Leu446Gln
NM_001375348.1:c.980T>A	NP_001362277.1:p.Leu327Gln
NM_001375349.1:c.1115T>A	NP_001362278.1:p.Leu372Gln
NM_001375350.1:c.1004T>A	NP_001362279.1:p.Leu335Gln
NM_198904.3:c.1424T>A	NP_944494.1:p.Leu475Gln
NM_198904.4:c.1424T>A MANE Select	NP_944494.1:p.Leu475Gln