Canonical Allele Identifier: CA16042335
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373072
ClinVar RCV Id: RCV000413426
dbSNP Id: rs1057518193

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144399368_144399371del , CM000664.2:g.144399368_144399371del GRCh38
NC_000002.11:g.145156935_145156938del , CM000664.1:g.145156935_145156938del GRCh37
NC_000002.10:g.144873405_144873408del NCBI36
NG_016431.1:g.126026_126029del

Transcript Alleles

HGVS Amino-acid change
ENST00000689298.1:c.*1670_*1673del ENSP00000508434.1:n.*1670_*1673del
ENST00000440875.6:c.1044_1047del ENSP00000475553.3:p.Asn348LysfsTer13
ENST00000627532.3:c.1821_1824del MANE Select ENSP00000487174.1:p.Asn607LysfsTer13
ENST00000636026.2:c.1821_1824del ENSP00000490776.1:p.Asn607LysfsTer13
ENST00000636179.1:n.1790_1793del
ENST00000636413.1:c.1485_1488del ENSP00000490508.1:p.Asn495LysfsTer13
ENST00000636471.1:c.1896_1899del ENSP00000490317.1:p.Asn632LysfsTer13
ENST00000636732.2:c.*1538_*1541del ENSP00000490175.1:n.*1538_*1541del
ENST00000636820.1:n.1921_1924del
ENST00000637045.1:c.1485_1488del ENSP00000490141.1:p.Asn495LysfsTer13
ENST00000637267.2:c.1821_1824del ENSP00000490293.2:p.Asn607LysfsTer?
ENST00000637304.1:c.1485_1488del ENSP00000490872.1:p.Asn495LysfsTer13
ENST00000638007.1:c.1485_1488del ENSP00000490723.1:p.Asn495LysfsTer13
ENST00000638087.1:c.1485_1488del ENSP00000490673.1:p.Asn495LysfsTer13
ENST00000638128.1:c.1044_1047del ENSP00000490934.1:p.Asn348LysfsTer13
ENST00000675069.1:c.-133-516_-133-513del ENSP00000502467.1:n.-133-516_-133-513del
ENST00000675145.1:n.2369_2372del
ENST00000303660.8:c.1818_1821del ENSP00000302501.4:p.Asn606LysfsTer13
ENST00000409487.7:c.1821_1824del ENSP00000386854.2:p.Asn607LysfsTer13
ENST00000419938.5:c.655+1833_655+1836del ENSP00000394777.2:n.655+1833_655+1836del
ENST00000427902.5:c.1908_1911del ENSP00000395496.2:p.Asn636LysfsTer13
ENST00000440875.5:c.1167+171_1167+174del ENSP00000475553.2:n.1167+171_1167+174del
ENST00000539609.7:c.1749_1752del ENSP00000443792.2:p.Asn583LysfsTer13
ENST00000558170.6:c.1821_1824del ENSP00000454157.1:p.Asn607LysfsTer13
ENST00000627532.2:c.1821_1824del ENSP00000487174.1:p.Asn607LysfsTer13
NM_001171653.1:c.1749_1752del NP_001165124.1:p.Asn583LysfsTer13
NM_014795.3:c.1821_1824del NP_055610.1:p.Asn607LysfsTer13
XM_006712881.2:c.1821_1824del XP_006712944.1:p.Asn607LysfsTer13
XM_006712882.2:c.1821_1824del XP_006712945.1:p.Asn607LysfsTer13
XM_011512231.1:c.1812_1815del XP_011510533.1:p.Asn604LysfsTer13
XM_011512232.1:c.1800_1803del XP_011510534.1:p.Asn600LysfsTer13
NM_014795.4:c.1821_1824del MANE Select NP_055610.1:p.Asn607LysfsTer13
NM_001171653.2:c.1749_1752del NP_001165124.1:p.Asn583LysfsTer13