Canonical Allele Identifier: CA362183204

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580112A>T (hg19) ; chr5:g.162153106A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153106A>T , CM000667.2:g.162153106A>T	GRCh38
NC_000005.9:g.161580112A>T , CM000667.1:g.161580112A>T	GRCh37
NC_000005.8:g.161512690A>T	NCBI36
NG_009290.1:g.90465A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1167A>T
ENST00000361925.9:c.1262A>T	ENSP00000354651.5:p.Asp421Val
ENST00000523372.2:c.1225A>T
ENST00000638253.1:n.420A>T
ENST00000638552.1:c.857A>T	ENSP00000491763.1:p.Asp286Val
ENST00000638660.1:c.881A>T	ENSP00000492869.1:p.Asp294Val
ENST00000638772.1:c.*3763A>T	ENSP00000491557.1:n.*3763A>T
ENST00000638877.1:c.1043A>T
ENST00000639046.1:c.533A>T	ENSP00000492659.1:p.Asp178Val
ENST00000639111.2:c.1142A>T	ENSP00000492125.2:p.Asp381Val
ENST00000639213.2:c.1166A>T MANE Select	ENSP00000491909.2:p.Asp389Val
ENST00000639278.1:c.1829A>T	ENSP00000491958.1:n.1829A>T
ENST00000639384.1:c.*1347A>T	ENSP00000491240.1:n.*1347A>T
ENST00000639424.1:c.*366A>T	ENSP00000491245.1:n.*366A>T
ENST00000639683.1:c.1100A>T	ENSP00000492581.1:p.Asp367Val
ENST00000639975.1:c.1076A>T	ENSP00000492096.1:p.Asp359Val
ENST00000640500.1:n.440A>T
ENST00000640739.1:n.6113A>T
ENST00000640910.1:c.604A>T
ENST00000640985.1:c.1079A>T	ENSP00000492293.1:p.Asp360Val
ENST00000641017.1:c.1235A>T	ENSP00000493461.1:p.Asp412Val
ENST00000356592.7:c.1166A>T	ENSP00000349000.3:p.Asp389Val
ENST00000361925.8:c.1142A>T	ENSP00000354651.4:p.Asp381Val
ENST00000414552.6:c.1286A>T	ENSP00000410732.2:p.Asp429Val
ENST00000522990.5:c.*744A>T	ENSP00000430732.1:n.*744A>T
ENST00000523372.1:c.1263A>T	ENSP00000430124.1:n.1263A>T
NM_000816.3:c.1142A>T	NP_000807.2:p.Asp381Val
NM_198903.2:c.1286A>T	NP_944493.2:p.Asp429Val
NM_198904.2:c.1166A>T	NP_944494.1:p.Asp389Val
NM_001375339.1:c.1157A>T	NP_001362268.1:p.Asp386Val
NM_001375340.1:c.960A>T	NP_001362269.1:p.Ter320Cys
NM_001375341.1:c.1163A>T	NP_001362270.1:p.Asp388Val
NM_001375342.1:c.1139A>T	NP_001362271.1:p.Asp380Val
NM_001375343.1:c.1262A>T	NP_001362272.1:p.Asp421Val
NM_001375344.1:c.1205A>T	NP_001362273.1:p.Asp402Val
NM_001375345.1:c.1076A>T	NP_001362274.1:p.Asp359Val
NM_001375346.1:c.1100A>T	NP_001362275.1:p.Asp367Val
NM_001375347.1:c.1079A>T	NP_001362276.1:p.Asp360Val
NM_001375348.1:c.722A>T	NP_001362277.1:p.Asp241Val
NM_001375349.1:c.857A>T	NP_001362278.1:p.Asp286Val
NM_001375350.1:c.746A>T	NP_001362279.1:p.Asp249Val
NM_198904.3:c.1166A>T	NP_944494.1:p.Asp389Val
NM_198904.4:c.1166A>T MANE Select	NP_944494.1:p.Asp389Val