Canonical Allele Identifier: CA362183877

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580286C>T (hg19) ; chr5:g.162153280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153280C>T , CM000667.2:g.162153280C>T	GRCh38
NC_000005.9:g.161580286C>T , CM000667.1:g.161580286C>T	GRCh37
NC_000005.8:g.161512864C>T	NCBI36
NG_009290.1:g.90639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1341C>T
ENST00000361925.9:c.1436C>T	ENSP00000354651.5:p.Ala479Val
ENST00000523372.2:c.1399C>T
ENST00000638253.1:n.594C>T
ENST00000638552.1:c.1031C>T	ENSP00000491763.1:p.Ala344Val
ENST00000638660.1:c.1055C>T	ENSP00000492869.1:p.Ala352Val
ENST00000638772.1:c.*3937C>T	ENSP00000491557.1:n.*3937C>T
ENST00000638877.1:c.1217C>T
ENST00000639046.1:c.707C>T	ENSP00000492659.1:p.Ala236Val
ENST00000639111.2:c.1316C>T	ENSP00000492125.2:p.Ala439Val
ENST00000639213.2:c.1340C>T MANE Select	ENSP00000491909.2:p.Ala447Val
ENST00000639278.1:c.2003C>T	ENSP00000491958.1:n.2003C>T
ENST00000639384.1:c.*1521C>T	ENSP00000491240.1:n.*1521C>T
ENST00000639424.1:c.*540C>T	ENSP00000491245.1:n.*540C>T
ENST00000639683.1:c.1274C>T	ENSP00000492581.1:p.Ala425Val
ENST00000639975.1:c.1250C>T	ENSP00000492096.1:p.Ala417Val
ENST00000640500.1:n.614C>T
ENST00000640739.1:n.6287C>T
ENST00000640910.1:c.778C>T
ENST00000640985.1:c.1253C>T	ENSP00000492293.1:p.Ala418Val
ENST00000641017.1:c.1409C>T	ENSP00000493461.1:p.Ala470Val
ENST00000356592.7:c.1340C>T	ENSP00000349000.3:p.Ala447Val
ENST00000361925.8:c.1316C>T	ENSP00000354651.4:p.Ala439Val
ENST00000414552.6:c.1460C>T	ENSP00000410732.2:p.Ala487Val
ENST00000522990.5:c.*918C>T	ENSP00000430732.1:n.*918C>T
ENST00000523372.1:c.1437C>T	ENSP00000430124.1:n.1437C>T
NM_000816.3:c.1316C>T	NP_000807.2:p.Ala439Val
NM_198903.2:c.1460C>T	NP_944493.2:p.Ala487Val
NM_198904.2:c.1340C>T	NP_944494.1:p.Ala447Val
NM_001375339.1:c.1331C>T	NP_001362268.1:p.Ala444Val
NM_001375340.1:c.*174C>T	NP_001362269.1:n.*174C>T
NM_001375341.1:c.1337C>T	NP_001362270.1:p.Ala446Val
NM_001375342.1:c.1313C>T	NP_001362271.1:p.Ala438Val
NM_001375343.1:c.1436C>T	NP_001362272.1:p.Ala479Val
NM_001375344.1:c.1379C>T	NP_001362273.1:p.Ala460Val
NM_001375345.1:c.1250C>T	NP_001362274.1:p.Ala417Val
NM_001375346.1:c.1274C>T	NP_001362275.1:p.Ala425Val
NM_001375347.1:c.1253C>T	NP_001362276.1:p.Ala418Val
NM_001375348.1:c.896C>T	NP_001362277.1:p.Ala299Val
NM_001375349.1:c.1031C>T	NP_001362278.1:p.Ala344Val
NM_001375350.1:c.920C>T	NP_001362279.1:p.Ala307Val
NM_198904.3:c.1340C>T	NP_944494.1:p.Ala447Val
NM_198904.4:c.1340C>T MANE Select	NP_944494.1:p.Ala447Val