Canonical Allele Identifier: CA2695205692
Gene: GABRG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162153348del , CM000667.2:g.162153348del GRCh38
NC_000005.9:g.161580354del , CM000667.1:g.161580354del GRCh37
NC_000005.8:g.161512932del NCBI36
NG_009290.1:g.90707del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356592.8:c.1409del
ENST00000361925.9:c.1504del ENSP00000354651.5:p.Val502SerfsTer?
ENST00000523372.2:c.1467del
ENST00000638253.1:n.662del
ENST00000638552.1:c.1099del ENSP00000491763.1:p.Val367SerfsTer?
ENST00000638660.1:c.1123del ENSP00000492869.1:p.Val375SerfsTer?
ENST00000638772.1:c.*4005del ENSP00000491557.1:n.*4005del
ENST00000638877.1:c.1285del
ENST00000639046.1:c.775del ENSP00000492659.1:p.Val259SerfsTer?
ENST00000639111.2:c.1384del ENSP00000492125.2:p.Val462SerfsTer?
ENST00000639213.2:c.1408del MANE Select ENSP00000491909.2:p.Val470SerfsTer?
ENST00000639278.1:c.2071del ENSP00000491958.1:n.2071del
ENST00000639384.1:c.*1589del ENSP00000491240.1:n.*1589del
ENST00000639424.1:c.*608del ENSP00000491245.1:n.*608del
ENST00000639683.1:c.1342del ENSP00000492581.1:p.Val448SerfsTer?
ENST00000639975.1:c.1318del ENSP00000492096.1:p.Val440SerfsTer?
ENST00000640500.1:n.682del
ENST00000640739.1:n.6355del
ENST00000640910.1:c.846del
ENST00000640985.1:c.1321del ENSP00000492293.1:p.Val441SerfsTer?
ENST00000641017.1:c.1477del ENSP00000493461.1:p.Val493SerfsTer?
ENST00000356592.7:c.1408del ENSP00000349000.3:p.Val470SerfsTer?
ENST00000361925.8:c.1384del ENSP00000354651.4:p.Val462SerfsTer?
ENST00000414552.6:c.1528del ENSP00000410732.2:p.Val510SerfsTer?
ENST00000522990.5:c.*986del ENSP00000430732.1:n.*986del
ENST00000523372.1:c.1505del ENSP00000430124.1:n.1505del
NM_000816.3:c.1384del NP_000807.2:p.Val462SerfsTer?
NM_198903.2:c.1528del NP_944493.2:p.Val510SerfsTer?
NM_198904.2:c.1408del NP_944494.1:p.Val470SerfsTer?
NM_001375339.1:c.1399del NP_001362268.1:p.Val467SerfsTer?
NM_001375340.1:c.*242del NP_001362269.1:n.*242del
NM_001375341.1:c.1405del NP_001362270.1:p.Val469SerfsTer?
NM_001375342.1:c.1381del NP_001362271.1:p.Val461SerfsTer?
NM_001375343.1:c.1504del NP_001362272.1:p.Val502SerfsTer?
NM_001375344.1:c.1447del NP_001362273.1:p.Val483SerfsTer?
NM_001375345.1:c.1318del NP_001362274.1:p.Val440SerfsTer?
NM_001375346.1:c.1342del NP_001362275.1:p.Val448SerfsTer?
NM_001375347.1:c.1321del NP_001362276.1:p.Val441SerfsTer?
NM_001375348.1:c.964del NP_001362277.1:p.Val322SerfsTer?
NM_001375349.1:c.1099del NP_001362278.1:p.Val367SerfsTer?
NM_001375350.1:c.988del NP_001362279.1:p.Val330SerfsTer?
NM_198904.3:c.1408del NP_944494.1:p.Val470SerfsTer?
NM_198904.4:c.1408del MANE Select NP_944494.1:p.Val470SerfsTer?