Canonical Allele Identifier: CA362183585

Gene: GABRG2

Linked Data

• COSMIC: COSM1207795
• MyVariant Identifiers: chr5:g.161580208A>G (hg19) ; chr5:g.162153202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153202A>G , CM000667.2:g.162153202A>G	GRCh38
NC_000005.9:g.161580208A>G , CM000667.1:g.161580208A>G	GRCh37
NC_000005.8:g.161512786A>G	NCBI36
NG_009290.1:g.90561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1263A>G
ENST00000361925.9:c.1358A>G	ENSP00000354651.5:p.Asp453Gly
ENST00000523372.2:c.1321A>G
ENST00000638253.1:n.516A>G
ENST00000638552.1:c.953A>G	ENSP00000491763.1:p.Asp318Gly
ENST00000638660.1:c.977A>G	ENSP00000492869.1:p.Asp326Gly
ENST00000638772.1:c.*3859A>G	ENSP00000491557.1:n.*3859A>G
ENST00000638877.1:c.1139A>G
ENST00000639046.1:c.629A>G	ENSP00000492659.1:p.Asp210Gly
ENST00000639111.2:c.1238A>G	ENSP00000492125.2:p.Asp413Gly
ENST00000639213.2:c.1262A>G MANE Select	ENSP00000491909.2:p.Asp421Gly
ENST00000639278.1:c.1925A>G	ENSP00000491958.1:n.1925A>G
ENST00000639384.1:c.*1443A>G	ENSP00000491240.1:n.*1443A>G
ENST00000639424.1:c.*462A>G	ENSP00000491245.1:n.*462A>G
ENST00000639683.1:c.1196A>G	ENSP00000492581.1:p.Asp399Gly
ENST00000639975.1:c.1172A>G	ENSP00000492096.1:p.Asp391Gly
ENST00000640500.1:n.536A>G
ENST00000640739.1:n.6209A>G
ENST00000640910.1:c.700A>G
ENST00000640985.1:c.1175A>G	ENSP00000492293.1:p.Asp392Gly
ENST00000641017.1:c.1331A>G	ENSP00000493461.1:p.Asp444Gly
ENST00000356592.7:c.1262A>G	ENSP00000349000.3:p.Asp421Gly
ENST00000361925.8:c.1238A>G	ENSP00000354651.4:p.Asp413Gly
ENST00000414552.6:c.1382A>G	ENSP00000410732.2:p.Asp461Gly
ENST00000522990.5:c.*840A>G	ENSP00000430732.1:n.*840A>G
ENST00000523372.1:c.1359A>G	ENSP00000430124.1:n.1359A>G
NM_000816.3:c.1238A>G	NP_000807.2:p.Asp413Gly
NM_198903.2:c.1382A>G	NP_944493.2:p.Asp461Gly
NM_198904.2:c.1262A>G	NP_944494.1:p.Asp421Gly
NM_001375339.1:c.1253A>G	NP_001362268.1:p.Asp418Gly
NM_001375340.1:c.*96A>G	NP_001362269.1:n.*96A>G
NM_001375341.1:c.1259A>G	NP_001362270.1:p.Asp420Gly
NM_001375342.1:c.1235A>G	NP_001362271.1:p.Asp412Gly
NM_001375343.1:c.1358A>G	NP_001362272.1:p.Asp453Gly
NM_001375344.1:c.1301A>G	NP_001362273.1:p.Asp434Gly
NM_001375345.1:c.1172A>G	NP_001362274.1:p.Asp391Gly
NM_001375346.1:c.1196A>G	NP_001362275.1:p.Asp399Gly
NM_001375347.1:c.1175A>G	NP_001362276.1:p.Asp392Gly
NM_001375348.1:c.818A>G	NP_001362277.1:p.Asp273Gly
NM_001375349.1:c.953A>G	NP_001362278.1:p.Asp318Gly
NM_001375350.1:c.842A>G	NP_001362279.1:p.Asp281Gly
NM_198904.3:c.1262A>G	NP_944494.1:p.Asp421Gly
NM_198904.4:c.1262A>G MANE Select	NP_944494.1:p.Asp421Gly