Canonical Allele Identifier: CA2580063871
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2129597
ClinVar RCV Id: RCV003040614

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144399838_144399839del , CM000664.2:g.144399838_144399839del GRCh38
NC_000002.11:g.145157405_145157406del , CM000664.1:g.145157405_145157406del GRCh37
NC_000002.10:g.144873875_144873876del NCBI36
NG_016431.1:g.125554_125555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689298.1:c.*1198_*1199del ENSP00000508434.1:n.*1198_*1199del
ENST00000440875.6:c.572_573del ENSP00000475553.3:p.Phe191SerfsTer5
ENST00000627532.3:c.1349_1350del MANE Select ENSP00000487174.1:p.Phe450SerfsTer5
ENST00000636026.2:c.1349_1350del ENSP00000490776.1:p.Phe450SerfsTer5
ENST00000636179.1:n.1318_1319del
ENST00000636413.1:c.1013_1014del ENSP00000490508.1:p.Phe338SerfsTer5
ENST00000636471.1:c.1424_1425del ENSP00000490317.1:p.Phe475SerfsTer5
ENST00000636732.2:c.*1066_*1067del ENSP00000490175.1:n.*1066_*1067del
ENST00000636820.1:n.1449_1450del
ENST00000637045.1:c.1013_1014del ENSP00000490141.1:p.Phe338SerfsTer5
ENST00000637267.2:c.1349_1350del ENSP00000490293.2:p.Phe450SerfsTer5
ENST00000637304.1:c.1013_1014del ENSP00000490872.1:p.Phe338SerfsTer5
ENST00000638007.1:c.1013_1014del ENSP00000490723.1:p.Phe338SerfsTer5
ENST00000638087.1:c.1013_1014del ENSP00000490673.1:p.Phe338SerfsTer5
ENST00000638128.1:c.572_573del ENSP00000490934.1:p.Phe191SerfsTer5
ENST00000675069.1:c.-133-988_-133-987del ENSP00000502467.1:n.-133-988_-133-987del
ENST00000675145.1:n.1897_1898del
ENST00000303660.8:c.1346_1347del ENSP00000302501.4:p.Phe449SerfsTer5
ENST00000409487.7:c.1349_1350del ENSP00000386854.2:p.Phe450SerfsTer5
ENST00000419938.5:c.655+1361_655+1362del ENSP00000394777.2:n.655+1361_655+1362del
ENST00000427902.5:c.1436_1437del ENSP00000395496.2:p.Phe479SerfsTer5
ENST00000440875.5:c.1153+181_1153+182del ENSP00000475553.2:n.1153+181_1153+182del
ENST00000539609.7:c.1277_1278del ENSP00000443792.2:p.Phe426SerfsTer5
ENST00000558170.6:c.1349_1350del ENSP00000454157.1:p.Phe450SerfsTer5
ENST00000627532.2:c.1349_1350del ENSP00000487174.1:p.Phe450SerfsTer5
NM_001171653.1:c.1277_1278del NP_001165124.1:p.Phe426SerfsTer5
NM_014795.3:c.1349_1350del NP_055610.1:p.Phe450SerfsTer5
XM_006712881.2:c.1349_1350del XP_006712944.1:p.Phe450SerfsTer5
XM_006712882.2:c.1349_1350del XP_006712945.1:p.Phe450SerfsTer5
XM_011512231.1:c.1340_1341del XP_011510533.1:p.Phe447SerfsTer5
XM_011512232.1:c.1328_1329del XP_011510534.1:p.Phe443SerfsTer5
NM_014795.4:c.1349_1350del MANE Select NP_055610.1:p.Phe450SerfsTer5
NM_001171653.2:c.1277_1278del NP_001165124.1:p.Phe426SerfsTer5