Canonical Allele Identifier: CA2739271223
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2806244
ClinVar RCV Id: RCV003612570

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144398544dup , CM000664.2:g.144398544dup GRCh38
NC_000002.11:g.145156111dup , CM000664.1:g.145156111dup GRCh37
NC_000002.10:g.144872581dup NCBI36
NG_016431.1:g.126850dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000689298.1:c.*2494dup ENSP00000508434.1:n.*2494dup
ENST00000440875.6:c.1868dup ENSP00000475553.3:p.Val624SerfsTer8
ENST00000627532.3:c.2645dup MANE Select ENSP00000487174.1:p.Val883SerfsTer8
ENST00000636026.2:c.2645dup ENSP00000490776.1:p.Val883SerfsTer8
ENST00000636179.1:n.2614dup
ENST00000636413.1:c.2309dup ENSP00000490508.1:p.Val771SerfsTer8
ENST00000636471.1:c.2720dup ENSP00000490317.1:p.Val908SerfsTer8
ENST00000636732.2:c.*2362dup ENSP00000490175.1:n.*2362dup
ENST00000636820.1:n.2745dup
ENST00000637045.1:c.2309dup ENSP00000490141.1:p.Val771SerfsTer8
ENST00000637304.1:c.2309dup ENSP00000490872.1:p.Val771SerfsTer8
ENST00000638007.1:c.2309dup ENSP00000490723.1:p.Val771SerfsTer8
ENST00000638087.1:c.2309dup ENSP00000490673.1:p.Val771SerfsTer8
ENST00000638128.1:c.1868dup ENSP00000490934.1:p.Val624SerfsTer8
ENST00000675069.1:c.176dup ENSP00000502467.1:p.Val60SerfsTer8
ENST00000303660.8:c.2642dup ENSP00000302501.4:p.Val882SerfsTer8
ENST00000409487.7:c.2645dup ENSP00000386854.2:p.Val883SerfsTer8
ENST00000419938.5:c.655+2657dup ENSP00000394777.2:n.655+2657dup
ENST00000440875.5:c.1168-614dup ENSP00000475553.2:n.1168-614dup
ENST00000539609.7:c.2573dup ENSP00000443792.2:p.Val859SerfsTer8
ENST00000558170.6:c.2645dup ENSP00000454157.1:p.Val883SerfsTer8
ENST00000627532.2:c.2645dup ENSP00000487174.1:p.Val883SerfsTer8
NM_001171653.1:c.2573dup NP_001165124.1:p.Val859SerfsTer8
NM_014795.3:c.2645dup NP_055610.1:p.Val883SerfsTer8
XM_006712881.2:c.2645dup XP_006712944.1:p.Val883SerfsTer8
XM_006712882.2:c.2645dup XP_006712945.1:p.Val883SerfsTer8
XM_011512231.1:c.2636dup XP_011510533.1:p.Val880SerfsTer8
XM_011512232.1:c.2624dup XP_011510534.1:p.Val876SerfsTer8
NM_014795.4:c.2645dup MANE Select NP_055610.1:p.Val883SerfsTer8
NM_001171653.2:c.2573dup NP_001165124.1:p.Val859SerfsTer8