Canonical Allele Identifier: CA362184233
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153355A>G , CM000667.2:g.162153355A>G GRCh38
NC_000005.9:g.161580361A>G , CM000667.1:g.161580361A>G GRCh37
NC_000005.8:g.161512939A>G NCBI36
NG_009290.1:g.90714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1416A>G
ENST00000361925.9:c.1511A>G ENSP00000354651.5:p.Tyr504Cys
ENST00000523372.2:c.1474A>G
ENST00000638253.1:n.669A>G
ENST00000638552.1:c.1106A>G ENSP00000491763.1:p.Tyr369Cys
ENST00000638660.1:c.1130A>G ENSP00000492869.1:p.Tyr377Cys
ENST00000638772.1:c.*4012A>G ENSP00000491557.1:n.*4012A>G
ENST00000638877.1:c.1292A>G
ENST00000639046.1:c.782A>G ENSP00000492659.1:p.Tyr261Cys
ENST00000639111.2:c.1391A>G ENSP00000492125.2:p.Tyr464Cys
ENST00000639213.2:c.1415A>G MANE Select ENSP00000491909.2:p.Tyr472Cys
ENST00000639278.1:c.2078A>G ENSP00000491958.1:n.2078A>G
ENST00000639384.1:c.*1596A>G ENSP00000491240.1:n.*1596A>G
ENST00000639424.1:c.*615A>G ENSP00000491245.1:n.*615A>G
ENST00000639683.1:c.1349A>G ENSP00000492581.1:p.Tyr450Cys
ENST00000639975.1:c.1325A>G ENSP00000492096.1:p.Tyr442Cys
ENST00000640500.1:n.689A>G
ENST00000640739.1:n.6362A>G
ENST00000640910.1:c.853A>G
ENST00000640985.1:c.1328A>G ENSP00000492293.1:p.Tyr443Cys
ENST00000641017.1:c.1484A>G ENSP00000493461.1:p.Tyr495Cys
ENST00000356592.7:c.1415A>G ENSP00000349000.3:p.Tyr472Cys
ENST00000361925.8:c.1391A>G ENSP00000354651.4:p.Tyr464Cys
ENST00000414552.6:c.1535A>G ENSP00000410732.2:p.Tyr512Cys
ENST00000522990.5:c.*993A>G ENSP00000430732.1:n.*993A>G
ENST00000523372.1:c.1512A>G ENSP00000430124.1:n.1512A>G
NM_000816.3:c.1391A>G NP_000807.2:p.Tyr464Cys
NM_198903.2:c.1535A>G NP_944493.2:p.Tyr512Cys
NM_198904.2:c.1415A>G NP_944494.1:p.Tyr472Cys
NM_001375339.1:c.1406A>G NP_001362268.1:p.Tyr469Cys
NM_001375340.1:c.*249A>G NP_001362269.1:n.*249A>G
NM_001375341.1:c.1412A>G NP_001362270.1:p.Tyr471Cys
NM_001375342.1:c.1388A>G NP_001362271.1:p.Tyr463Cys
NM_001375343.1:c.1511A>G NP_001362272.1:p.Tyr504Cys
NM_001375344.1:c.1454A>G NP_001362273.1:p.Tyr485Cys
NM_001375345.1:c.1325A>G NP_001362274.1:p.Tyr442Cys
NM_001375346.1:c.1349A>G NP_001362275.1:p.Tyr450Cys
NM_001375347.1:c.1328A>G NP_001362276.1:p.Tyr443Cys
NM_001375348.1:c.971A>G NP_001362277.1:p.Tyr324Cys
NM_001375349.1:c.1106A>G NP_001362278.1:p.Tyr369Cys
NM_001375350.1:c.995A>G NP_001362279.1:p.Tyr332Cys
NM_198904.3:c.1415A>G NP_944494.1:p.Tyr472Cys
NM_198904.4:c.1415A>G MANE Select NP_944494.1:p.Tyr472Cys