Canonical Allele Identifier: CA362184045

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580324G>A (hg19) ; chr5:g.162153318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153318G>A , CM000667.2:g.162153318G>A	GRCh38
NC_000005.9:g.161580324G>A , CM000667.1:g.161580324G>A	GRCh37
NC_000005.8:g.161512902G>A	NCBI36
NG_009290.1:g.90677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1379G>A
ENST00000361925.9:c.1474G>A	ENSP00000354651.5:p.Ala492Thr
ENST00000523372.2:c.1437G>A
ENST00000638253.1:n.632G>A
ENST00000638552.1:c.1069G>A	ENSP00000491763.1:p.Ala357Thr
ENST00000638660.1:c.1093G>A	ENSP00000492869.1:p.Ala365Thr
ENST00000638772.1:c.*3975G>A	ENSP00000491557.1:n.*3975G>A
ENST00000638877.1:c.1255G>A
ENST00000639046.1:c.745G>A	ENSP00000492659.1:p.Ala249Thr
ENST00000639111.2:c.1354G>A	ENSP00000492125.2:p.Ala452Thr
ENST00000639213.2:c.1378G>A MANE Select	ENSP00000491909.2:p.Ala460Thr
ENST00000639278.1:c.2041G>A	ENSP00000491958.1:n.2041G>A
ENST00000639384.1:c.*1559G>A	ENSP00000491240.1:n.*1559G>A
ENST00000639424.1:c.*578G>A	ENSP00000491245.1:n.*578G>A
ENST00000639683.1:c.1312G>A	ENSP00000492581.1:p.Ala438Thr
ENST00000639975.1:c.1288G>A	ENSP00000492096.1:p.Ala430Thr
ENST00000640500.1:n.652G>A
ENST00000640739.1:n.6325G>A
ENST00000640910.1:c.816G>A
ENST00000640985.1:c.1291G>A	ENSP00000492293.1:p.Ala431Thr
ENST00000641017.1:c.1447G>A	ENSP00000493461.1:p.Ala483Thr
ENST00000356592.7:c.1378G>A	ENSP00000349000.3:p.Ala460Thr
ENST00000361925.8:c.1354G>A	ENSP00000354651.4:p.Ala452Thr
ENST00000414552.6:c.1498G>A	ENSP00000410732.2:p.Ala500Thr
ENST00000522990.5:c.*956G>A	ENSP00000430732.1:n.*956G>A
ENST00000523372.1:c.1475G>A	ENSP00000430124.1:n.1475G>A
NM_000816.3:c.1354G>A	NP_000807.2:p.Ala452Thr
NM_198903.2:c.1498G>A	NP_944493.2:p.Ala500Thr
NM_198904.2:c.1378G>A	NP_944494.1:p.Ala460Thr
NM_001375339.1:c.1369G>A	NP_001362268.1:p.Ala457Thr
NM_001375340.1:c.*212G>A	NP_001362269.1:n.*212G>A
NM_001375341.1:c.1375G>A	NP_001362270.1:p.Ala459Thr
NM_001375342.1:c.1351G>A	NP_001362271.1:p.Ala451Thr
NM_001375343.1:c.1474G>A	NP_001362272.1:p.Ala492Thr
NM_001375344.1:c.1417G>A	NP_001362273.1:p.Ala473Thr
NM_001375345.1:c.1288G>A	NP_001362274.1:p.Ala430Thr
NM_001375346.1:c.1312G>A	NP_001362275.1:p.Ala438Thr
NM_001375347.1:c.1291G>A	NP_001362276.1:p.Ala431Thr
NM_001375348.1:c.934G>A	NP_001362277.1:p.Ala312Thr
NM_001375349.1:c.1069G>A	NP_001362278.1:p.Ala357Thr
NM_001375350.1:c.958G>A	NP_001362279.1:p.Ala320Thr
NM_198904.3:c.1378G>A	NP_944494.1:p.Ala460Thr
NM_198904.4:c.1378G>A MANE Select	NP_944494.1:p.Ala460Thr