Canonical Allele Identifier: CA362183809

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580268G>C (hg19) ; chr5:g.162153262G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153262G>C , CM000667.2:g.162153262G>C	GRCh38
NC_000005.9:g.161580268G>C , CM000667.1:g.161580268G>C	GRCh37
NC_000005.8:g.161512846G>C	NCBI36
NG_009290.1:g.90621G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1323G>C
ENST00000361925.9:c.1418G>C	ENSP00000354651.5:p.Arg473Thr
ENST00000523372.2:c.1381G>C
ENST00000638253.1:n.576G>C
ENST00000638552.1:c.1013G>C	ENSP00000491763.1:p.Arg338Thr
ENST00000638660.1:c.1037G>C	ENSP00000492869.1:p.Arg346Thr
ENST00000638772.1:c.*3919G>C	ENSP00000491557.1:n.*3919G>C
ENST00000638877.1:c.1199G>C
ENST00000639046.1:c.689G>C	ENSP00000492659.1:p.Arg230Thr
ENST00000639111.2:c.1298G>C	ENSP00000492125.2:p.Arg433Thr
ENST00000639213.2:c.1322G>C MANE Select	ENSP00000491909.2:p.Arg441Thr
ENST00000639278.1:c.1985G>C	ENSP00000491958.1:n.1985G>C
ENST00000639384.1:c.*1503G>C	ENSP00000491240.1:n.*1503G>C
ENST00000639424.1:c.*522G>C	ENSP00000491245.1:n.*522G>C
ENST00000639683.1:c.1256G>C	ENSP00000492581.1:p.Arg419Thr
ENST00000639975.1:c.1232G>C	ENSP00000492096.1:p.Arg411Thr
ENST00000640500.1:n.596G>C
ENST00000640739.1:n.6269G>C
ENST00000640910.1:c.760G>C
ENST00000640985.1:c.1235G>C	ENSP00000492293.1:p.Arg412Thr
ENST00000641017.1:c.1391G>C	ENSP00000493461.1:p.Arg464Thr
ENST00000356592.7:c.1322G>C	ENSP00000349000.3:p.Arg441Thr
ENST00000361925.8:c.1298G>C	ENSP00000354651.4:p.Arg433Thr
ENST00000414552.6:c.1442G>C	ENSP00000410732.2:p.Arg481Thr
ENST00000522990.5:c.*900G>C	ENSP00000430732.1:n.*900G>C
ENST00000523372.1:c.1419G>C	ENSP00000430124.1:n.1419G>C
NM_000816.3:c.1298G>C	NP_000807.2:p.Arg433Thr
NM_198903.2:c.1442G>C	NP_944493.2:p.Arg481Thr
NM_198904.2:c.1322G>C	NP_944494.1:p.Arg441Thr
NM_001375339.1:c.1313G>C	NP_001362268.1:p.Arg438Thr
NM_001375340.1:c.*156G>C	NP_001362269.1:n.*156G>C
NM_001375341.1:c.1319G>C	NP_001362270.1:p.Arg440Thr
NM_001375342.1:c.1295G>C	NP_001362271.1:p.Arg432Thr
NM_001375343.1:c.1418G>C	NP_001362272.1:p.Arg473Thr
NM_001375344.1:c.1361G>C	NP_001362273.1:p.Arg454Thr
NM_001375345.1:c.1232G>C	NP_001362274.1:p.Arg411Thr
NM_001375346.1:c.1256G>C	NP_001362275.1:p.Arg419Thr
NM_001375347.1:c.1235G>C	NP_001362276.1:p.Arg412Thr
NM_001375348.1:c.878G>C	NP_001362277.1:p.Arg293Thr
NM_001375349.1:c.1013G>C	NP_001362278.1:p.Arg338Thr
NM_001375350.1:c.902G>C	NP_001362279.1:p.Arg301Thr
NM_198904.3:c.1322G>C	NP_944494.1:p.Arg441Thr
NM_198904.4:c.1322G>C MANE Select	NP_944494.1:p.Arg441Thr