Canonical Allele Identifier: CA362183628

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580226G>A (hg19) ; chr5:g.162153220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153220G>A , CM000667.2:g.162153220G>A	GRCh38
NC_000005.9:g.161580226G>A , CM000667.1:g.161580226G>A	GRCh37
NC_000005.8:g.161512804G>A	NCBI36
NG_009290.1:g.90579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1281G>A
ENST00000361925.9:c.1376G>A	ENSP00000354651.5:p.Cys459Tyr
ENST00000523372.2:c.1339G>A
ENST00000638253.1:n.534G>A
ENST00000638552.1:c.971G>A	ENSP00000491763.1:p.Cys324Tyr
ENST00000638660.1:c.995G>A	ENSP00000492869.1:p.Cys332Tyr
ENST00000638772.1:c.*3877G>A	ENSP00000491557.1:n.*3877G>A
ENST00000638877.1:c.1157G>A
ENST00000639046.1:c.647G>A	ENSP00000492659.1:p.Cys216Tyr
ENST00000639111.2:c.1256G>A	ENSP00000492125.2:p.Cys419Tyr
ENST00000639213.2:c.1280G>A MANE Select	ENSP00000491909.2:p.Cys427Tyr
ENST00000639278.1:c.1943G>A	ENSP00000491958.1:n.1943G>A
ENST00000639384.1:c.*1461G>A	ENSP00000491240.1:n.*1461G>A
ENST00000639424.1:c.*480G>A	ENSP00000491245.1:n.*480G>A
ENST00000639683.1:c.1214G>A	ENSP00000492581.1:p.Cys405Tyr
ENST00000639975.1:c.1190G>A	ENSP00000492096.1:p.Cys397Tyr
ENST00000640500.1:n.554G>A
ENST00000640739.1:n.6227G>A
ENST00000640910.1:c.718G>A
ENST00000640985.1:c.1193G>A	ENSP00000492293.1:p.Cys398Tyr
ENST00000641017.1:c.1349G>A	ENSP00000493461.1:p.Cys450Tyr
ENST00000356592.7:c.1280G>A	ENSP00000349000.3:p.Cys427Tyr
ENST00000361925.8:c.1256G>A	ENSP00000354651.4:p.Cys419Tyr
ENST00000414552.6:c.1400G>A	ENSP00000410732.2:p.Cys467Tyr
ENST00000522990.5:c.*858G>A	ENSP00000430732.1:n.*858G>A
ENST00000523372.1:c.1377G>A	ENSP00000430124.1:n.1377G>A
NM_000816.3:c.1256G>A	NP_000807.2:p.Cys419Tyr
NM_198903.2:c.1400G>A	NP_944493.2:p.Cys467Tyr
NM_198904.2:c.1280G>A	NP_944494.1:p.Cys427Tyr
NM_001375339.1:c.1271G>A	NP_001362268.1:p.Cys424Tyr
NM_001375340.1:c.*114G>A	NP_001362269.1:n.*114G>A
NM_001375341.1:c.1277G>A	NP_001362270.1:p.Cys426Tyr
NM_001375342.1:c.1253G>A	NP_001362271.1:p.Cys418Tyr
NM_001375343.1:c.1376G>A	NP_001362272.1:p.Cys459Tyr
NM_001375344.1:c.1319G>A	NP_001362273.1:p.Cys440Tyr
NM_001375345.1:c.1190G>A	NP_001362274.1:p.Cys397Tyr
NM_001375346.1:c.1214G>A	NP_001362275.1:p.Cys405Tyr
NM_001375347.1:c.1193G>A	NP_001362276.1:p.Cys398Tyr
NM_001375348.1:c.836G>A	NP_001362277.1:p.Cys279Tyr
NM_001375349.1:c.971G>A	NP_001362278.1:p.Cys324Tyr
NM_001375350.1:c.860G>A	NP_001362279.1:p.Cys287Tyr
NM_198904.3:c.1280G>A	NP_944494.1:p.Cys427Tyr
NM_198904.4:c.1280G>A MANE Select	NP_944494.1:p.Cys427Tyr