Canonical Allele Identifier: CA362184112

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580338T>A (hg19) ; chr5:g.162153332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153332T>A , CM000667.2:g.162153332T>A	GRCh38
NC_000005.9:g.161580338T>A , CM000667.1:g.161580338T>A	GRCh37
NC_000005.8:g.161512916T>A	NCBI36
NG_009290.1:g.90691T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1393T>A
ENST00000361925.9:c.1488T>A	ENSP00000354651.5:p.Phe496Leu
ENST00000523372.2:c.1451T>A
ENST00000638253.1:n.646T>A
ENST00000638552.1:c.1083T>A	ENSP00000491763.1:p.Phe361Leu
ENST00000638660.1:c.1107T>A	ENSP00000492869.1:p.Phe369Leu
ENST00000638772.1:c.*3989T>A	ENSP00000491557.1:n.*3989T>A
ENST00000638877.1:c.1269T>A
ENST00000639046.1:c.759T>A	ENSP00000492659.1:p.Phe253Leu
ENST00000639111.2:c.1368T>A	ENSP00000492125.2:p.Phe456Leu
ENST00000639213.2:c.1392T>A MANE Select	ENSP00000491909.2:p.Phe464Leu
ENST00000639278.1:c.2055T>A	ENSP00000491958.1:n.2055T>A
ENST00000639384.1:c.*1573T>A	ENSP00000491240.1:n.*1573T>A
ENST00000639424.1:c.*592T>A	ENSP00000491245.1:n.*592T>A
ENST00000639683.1:c.1326T>A	ENSP00000492581.1:p.Phe442Leu
ENST00000639975.1:c.1302T>A	ENSP00000492096.1:p.Phe434Leu
ENST00000640500.1:n.666T>A
ENST00000640739.1:n.6339T>A
ENST00000640910.1:c.830T>A
ENST00000640985.1:c.1305T>A	ENSP00000492293.1:p.Phe435Leu
ENST00000641017.1:c.1461T>A	ENSP00000493461.1:p.Phe487Leu
ENST00000356592.7:c.1392T>A	ENSP00000349000.3:p.Phe464Leu
ENST00000361925.8:c.1368T>A	ENSP00000354651.4:p.Phe456Leu
ENST00000414552.6:c.1512T>A	ENSP00000410732.2:p.Phe504Leu
ENST00000522990.5:c.*970T>A	ENSP00000430732.1:n.*970T>A
ENST00000523372.1:c.1489T>A	ENSP00000430124.1:n.1489T>A
NM_000816.3:c.1368T>A	NP_000807.2:p.Phe456Leu
NM_198903.2:c.1512T>A	NP_944493.2:p.Phe504Leu
NM_198904.2:c.1392T>A	NP_944494.1:p.Phe464Leu
NM_001375339.1:c.1383T>A	NP_001362268.1:p.Phe461Leu
NM_001375340.1:c.*226T>A	NP_001362269.1:n.*226T>A
NM_001375341.1:c.1389T>A	NP_001362270.1:p.Phe463Leu
NM_001375342.1:c.1365T>A	NP_001362271.1:p.Phe455Leu
NM_001375343.1:c.1488T>A	NP_001362272.1:p.Phe496Leu
NM_001375344.1:c.1431T>A	NP_001362273.1:p.Phe477Leu
NM_001375345.1:c.1302T>A	NP_001362274.1:p.Phe434Leu
NM_001375346.1:c.1326T>A	NP_001362275.1:p.Phe442Leu
NM_001375347.1:c.1305T>A	NP_001362276.1:p.Phe435Leu
NM_001375348.1:c.948T>A	NP_001362277.1:p.Phe316Leu
NM_001375349.1:c.1083T>A	NP_001362278.1:p.Phe361Leu
NM_001375350.1:c.972T>A	NP_001362279.1:p.Phe324Leu
NM_198904.3:c.1392T>A	NP_944494.1:p.Phe464Leu
NM_198904.4:c.1392T>A MANE Select	NP_944494.1:p.Phe464Leu