Canonical Allele Identifier: CA362183444

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580173T>A (hg19) ; chr5:g.162153167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153167T>A , CM000667.2:g.162153167T>A	GRCh38
NC_000005.9:g.161580173T>A , CM000667.1:g.161580173T>A	GRCh37
NC_000005.8:g.161512751T>A	NCBI36
NG_009290.1:g.90526T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1228T>A
ENST00000361925.9:c.1323T>A	ENSP00000354651.5:p.Asp441Glu
ENST00000523372.2:c.1286T>A
ENST00000638253.1:n.481T>A
ENST00000638552.1:c.918T>A	ENSP00000491763.1:p.Asp306Glu
ENST00000638660.1:c.942T>A	ENSP00000492869.1:p.Asp314Glu
ENST00000638772.1:c.*3824T>A	ENSP00000491557.1:n.*3824T>A
ENST00000638877.1:c.1104T>A
ENST00000639046.1:c.594T>A	ENSP00000492659.1:p.Asp198Glu
ENST00000639111.2:c.1203T>A	ENSP00000492125.2:p.Asp401Glu
ENST00000639213.2:c.1227T>A MANE Select	ENSP00000491909.2:p.Asp409Glu
ENST00000639278.1:c.1890T>A	ENSP00000491958.1:n.1890T>A
ENST00000639384.1:c.*1408T>A	ENSP00000491240.1:n.*1408T>A
ENST00000639424.1:c.*427T>A	ENSP00000491245.1:n.*427T>A
ENST00000639683.1:c.1161T>A	ENSP00000492581.1:p.Asp387Glu
ENST00000639975.1:c.1137T>A	ENSP00000492096.1:p.Asp379Glu
ENST00000640500.1:n.501T>A
ENST00000640739.1:n.6174T>A
ENST00000640910.1:c.665T>A
ENST00000640985.1:c.1140T>A	ENSP00000492293.1:p.Asp380Glu
ENST00000641017.1:c.1296T>A	ENSP00000493461.1:p.Asp432Glu
ENST00000356592.7:c.1227T>A	ENSP00000349000.3:p.Asp409Glu
ENST00000361925.8:c.1203T>A	ENSP00000354651.4:p.Asp401Glu
ENST00000414552.6:c.1347T>A	ENSP00000410732.2:p.Asp449Glu
ENST00000522990.5:c.*805T>A	ENSP00000430732.1:n.*805T>A
ENST00000523372.1:c.1324T>A	ENSP00000430124.1:n.1324T>A
NM_000816.3:c.1203T>A	NP_000807.2:p.Asp401Glu
NM_198903.2:c.1347T>A	NP_944493.2:p.Asp449Glu
NM_198904.2:c.1227T>A	NP_944494.1:p.Asp409Glu
NM_001375339.1:c.1218T>A	NP_001362268.1:p.Asp406Glu
NM_001375340.1:c.*61T>A	NP_001362269.1:n.*61T>A
NM_001375341.1:c.1224T>A	NP_001362270.1:p.Asp408Glu
NM_001375342.1:c.1200T>A	NP_001362271.1:p.Asp400Glu
NM_001375343.1:c.1323T>A	NP_001362272.1:p.Asp441Glu
NM_001375344.1:c.1266T>A	NP_001362273.1:p.Asp422Glu
NM_001375345.1:c.1137T>A	NP_001362274.1:p.Asp379Glu
NM_001375346.1:c.1161T>A	NP_001362275.1:p.Asp387Glu
NM_001375347.1:c.1140T>A	NP_001362276.1:p.Asp380Glu
NM_001375348.1:c.783T>A	NP_001362277.1:p.Asp261Glu
NM_001375349.1:c.918T>A	NP_001362278.1:p.Asp306Glu
NM_001375350.1:c.807T>A	NP_001362279.1:p.Asp269Glu
NM_198904.3:c.1227T>A	NP_944494.1:p.Asp409Glu
NM_198904.4:c.1227T>A MANE Select	NP_944494.1:p.Asp409Glu