Canonical Allele Identifier: CA362184100

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580336T>A (hg19) ; chr5:g.162153330T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153330T>A , CM000667.2:g.162153330T>A	GRCh38
NC_000005.9:g.161580336T>A , CM000667.1:g.161580336T>A	GRCh37
NC_000005.8:g.161512914T>A	NCBI36
NG_009290.1:g.90689T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1391T>A
ENST00000361925.9:c.1486T>A	ENSP00000354651.5:p.Phe496Ile
ENST00000523372.2:c.1449T>A
ENST00000638253.1:n.644T>A
ENST00000638552.1:c.1081T>A	ENSP00000491763.1:p.Phe361Ile
ENST00000638660.1:c.1105T>A	ENSP00000492869.1:p.Phe369Ile
ENST00000638772.1:c.*3987T>A	ENSP00000491557.1:n.*3987T>A
ENST00000638877.1:c.1267T>A
ENST00000639046.1:c.757T>A	ENSP00000492659.1:p.Phe253Ile
ENST00000639111.2:c.1366T>A	ENSP00000492125.2:p.Phe456Ile
ENST00000639213.2:c.1390T>A MANE Select	ENSP00000491909.2:p.Phe464Ile
ENST00000639278.1:c.2053T>A	ENSP00000491958.1:n.2053T>A
ENST00000639384.1:c.*1571T>A	ENSP00000491240.1:n.*1571T>A
ENST00000639424.1:c.*590T>A	ENSP00000491245.1:n.*590T>A
ENST00000639683.1:c.1324T>A	ENSP00000492581.1:p.Phe442Ile
ENST00000639975.1:c.1300T>A	ENSP00000492096.1:p.Phe434Ile
ENST00000640500.1:n.664T>A
ENST00000640739.1:n.6337T>A
ENST00000640910.1:c.828T>A
ENST00000640985.1:c.1303T>A	ENSP00000492293.1:p.Phe435Ile
ENST00000641017.1:c.1459T>A	ENSP00000493461.1:p.Phe487Ile
ENST00000356592.7:c.1390T>A	ENSP00000349000.3:p.Phe464Ile
ENST00000361925.8:c.1366T>A	ENSP00000354651.4:p.Phe456Ile
ENST00000414552.6:c.1510T>A	ENSP00000410732.2:p.Phe504Ile
ENST00000522990.5:c.*968T>A	ENSP00000430732.1:n.*968T>A
ENST00000523372.1:c.1487T>A	ENSP00000430124.1:n.1487T>A
NM_000816.3:c.1366T>A	NP_000807.2:p.Phe456Ile
NM_198903.2:c.1510T>A	NP_944493.2:p.Phe504Ile
NM_198904.2:c.1390T>A	NP_944494.1:p.Phe464Ile
NM_001375339.1:c.1381T>A	NP_001362268.1:p.Phe461Ile
NM_001375340.1:c.*224T>A	NP_001362269.1:n.*224T>A
NM_001375341.1:c.1387T>A	NP_001362270.1:p.Phe463Ile
NM_001375342.1:c.1363T>A	NP_001362271.1:p.Phe455Ile
NM_001375343.1:c.1486T>A	NP_001362272.1:p.Phe496Ile
NM_001375344.1:c.1429T>A	NP_001362273.1:p.Phe477Ile
NM_001375345.1:c.1300T>A	NP_001362274.1:p.Phe434Ile
NM_001375346.1:c.1324T>A	NP_001362275.1:p.Phe442Ile
NM_001375347.1:c.1303T>A	NP_001362276.1:p.Phe435Ile
NM_001375348.1:c.946T>A	NP_001362277.1:p.Phe316Ile
NM_001375349.1:c.1081T>A	NP_001362278.1:p.Phe361Ile
NM_001375350.1:c.970T>A	NP_001362279.1:p.Phe324Ile
NM_198904.3:c.1390T>A	NP_944494.1:p.Phe464Ile
NM_198904.4:c.1390T>A MANE Select	NP_944494.1:p.Phe464Ile