Canonical Allele Identifier: CA362183668

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580235A>T (hg19) ; chr5:g.162153229A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153229A>T , CM000667.2:g.162153229A>T	GRCh38
NC_000005.9:g.161580235A>T , CM000667.1:g.161580235A>T	GRCh37
NC_000005.8:g.161512813A>T	NCBI36
NG_009290.1:g.90588A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1290A>T
ENST00000361925.9:c.1385A>T	ENSP00000354651.5:p.Glu462Val
ENST00000523372.2:c.1348A>T
ENST00000638253.1:n.543A>T
ENST00000638552.1:c.980A>T	ENSP00000491763.1:p.Glu327Val
ENST00000638660.1:c.1004A>T	ENSP00000492869.1:p.Glu335Val
ENST00000638772.1:c.*3886A>T	ENSP00000491557.1:n.*3886A>T
ENST00000638877.1:c.1166A>T
ENST00000639046.1:c.656A>T	ENSP00000492659.1:p.Glu219Val
ENST00000639111.2:c.1265A>T	ENSP00000492125.2:p.Glu422Val
ENST00000639213.2:c.1289A>T MANE Select	ENSP00000491909.2:p.Glu430Val
ENST00000639278.1:c.1952A>T	ENSP00000491958.1:n.1952A>T
ENST00000639384.1:c.*1470A>T	ENSP00000491240.1:n.*1470A>T
ENST00000639424.1:c.*489A>T	ENSP00000491245.1:n.*489A>T
ENST00000639683.1:c.1223A>T	ENSP00000492581.1:p.Glu408Val
ENST00000639975.1:c.1199A>T	ENSP00000492096.1:p.Glu400Val
ENST00000640500.1:n.563A>T
ENST00000640739.1:n.6236A>T
ENST00000640910.1:c.727A>T
ENST00000640985.1:c.1202A>T	ENSP00000492293.1:p.Glu401Val
ENST00000641017.1:c.1358A>T	ENSP00000493461.1:p.Glu453Val
ENST00000356592.7:c.1289A>T	ENSP00000349000.3:p.Glu430Val
ENST00000361925.8:c.1265A>T	ENSP00000354651.4:p.Glu422Val
ENST00000414552.6:c.1409A>T	ENSP00000410732.2:p.Glu470Val
ENST00000522990.5:c.*867A>T	ENSP00000430732.1:n.*867A>T
ENST00000523372.1:c.1386A>T	ENSP00000430124.1:n.1386A>T
NM_000816.3:c.1265A>T	NP_000807.2:p.Glu422Val
NM_198903.2:c.1409A>T	NP_944493.2:p.Glu470Val
NM_198904.2:c.1289A>T	NP_944494.1:p.Glu430Val
NM_001375339.1:c.1280A>T	NP_001362268.1:p.Glu427Val
NM_001375340.1:c.*123A>T	NP_001362269.1:n.*123A>T
NM_001375341.1:c.1286A>T	NP_001362270.1:p.Glu429Val
NM_001375342.1:c.1262A>T	NP_001362271.1:p.Glu421Val
NM_001375343.1:c.1385A>T	NP_001362272.1:p.Glu462Val
NM_001375344.1:c.1328A>T	NP_001362273.1:p.Glu443Val
NM_001375345.1:c.1199A>T	NP_001362274.1:p.Glu400Val
NM_001375346.1:c.1223A>T	NP_001362275.1:p.Glu408Val
NM_001375347.1:c.1202A>T	NP_001362276.1:p.Glu401Val
NM_001375348.1:c.845A>T	NP_001362277.1:p.Glu282Val
NM_001375349.1:c.980A>T	NP_001362278.1:p.Glu327Val
NM_001375350.1:c.869A>T	NP_001362279.1:p.Glu290Val
NM_198904.3:c.1289A>T	NP_944494.1:p.Glu430Val
NM_198904.4:c.1289A>T MANE Select	NP_944494.1:p.Glu430Val