Canonical Allele Identifier: CA429218489
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582982
ClinVar RCV Id: RCV003334225
MyVariant Identifiers: chr2:g.145161537G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144403970G>A , CM000664.2:g.144403970G>A GRCh38
NC_000002.11:g.145161537G>A , CM000664.1:g.145161537G>A GRCh37
NC_000002.10:g.144878007G>A NCBI36
NG_016431.1:g.121422C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000689298.1:c.*602C>T ENSP00000508434.1:n.*602C>T
ENST00000440875.6:c.-25C>T ENSP00000475553.3:n.-25C>T
ENST00000627532.3:c.753C>T MANE Select ENSP00000487174.1:p.Ala251=
ENST00000636026.2:c.753C>T ENSP00000490776.1:p.Ala251=
ENST00000636179.1:n.722C>T
ENST00000636413.1:c.417C>T ENSP00000490508.1:p.Ala139=
ENST00000636471.1:c.753C>T ENSP00000490317.1:p.Ala251=
ENST00000636732.2:c.*470C>T ENSP00000490175.1:n.*470C>T
ENST00000636820.1:n.853C>T
ENST00000637045.1:c.417C>T ENSP00000490141.1:p.Ala139=
ENST00000637267.2:c.753C>T ENSP00000490293.2:p.Ala251=
ENST00000637304.1:c.417C>T ENSP00000490872.1:p.Ala139=
ENST00000638007.1:c.417C>T ENSP00000490723.1:p.Ala139=
ENST00000638087.1:c.417C>T ENSP00000490673.1:p.Ala139=
ENST00000638128.1:c.-25C>T ENSP00000490934.1:n.-25C>T
ENST00000675069.1:c.-133-5120C>T ENSP00000502467.1:n.-133-5120C>T
ENST00000303660.8:c.750C>T ENSP00000302501.4:p.Ala250=
ENST00000392861.6:c.837C>T ENSP00000376601.3:p.Ala279=
ENST00000409487.7:c.753C>T ENSP00000386854.2:p.Ala251=
ENST00000419938.5:c.492C>T ENSP00000394777.2:p.Ala164=
ENST00000427902.5:c.840C>T ENSP00000395496.2:p.Ala280=
ENST00000440875.5:c.738C>T ENSP00000475553.2:p.Ala246=
ENST00000539609.7:c.681C>T ENSP00000443792.2:p.Ala227=
ENST00000558170.6:c.753C>T ENSP00000454157.1:p.Ala251=
ENST00000627532.2:c.753C>T ENSP00000487174.1:p.Ala251=
NM_001171653.1:c.681C>T NP_001165124.1:p.Ala227=
NM_014795.3:c.753C>T NP_055610.1:p.Ala251=
XM_006712881.2:c.753C>T XP_006712944.1:p.Ala251=
XM_006712882.2:c.753C>T XP_006712945.1:p.Ala251=
XM_011512231.1:c.744C>T XP_011510533.1:p.Ala248=
XM_011512232.1:c.732C>T XP_011510534.1:p.Ala244=
NM_014795.4:c.753C>T MANE Select NP_055610.1:p.Ala251=
NM_001171653.2:c.681C>T NP_001165124.1:p.Ala227=