Canonical Allele Identifier: CA1898248

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 589858
• ClinVar RCV Id: RCV002317568
• dbSNP Id: rs749005116
• ExAC: 2:145156328 T / A
• gnomAD v2: 2-145156328-T-A
• gnomAD v4: 2-144398761-T-A
• MyVariant Identifiers: chr2:g.145156328T>A (hg19) ; chr2:g.144398761T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398761T>A , CM000664.2:g.144398761T>A	GRCh38
NC_000002.11:g.145156328T>A , CM000664.1:g.145156328T>A	GRCh37
NC_000002.10:g.144872798T>A	NCBI36
NG_016431.1:g.126631A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2275A>T	ENSP00000508434.1:n.*2275A>T
ENST00000440875.6:c.1649A>T	ENSP00000475553.3:p.Glu550Val
ENST00000627532.3:c.2426A>T MANE Select	ENSP00000487174.1:p.Glu809Val
ENST00000636026.2:c.2426A>T	ENSP00000490776.1:p.Glu809Val
ENST00000636179.1:n.2395A>T
ENST00000636413.1:c.2090A>T	ENSP00000490508.1:p.Glu697Val
ENST00000636471.1:c.2501A>T	ENSP00000490317.1:p.Glu834Val
ENST00000636732.2:c.*2143A>T	ENSP00000490175.1:n.*2143A>T
ENST00000636820.1:n.2526A>T
ENST00000637045.1:c.2090A>T	ENSP00000490141.1:p.Glu697Val
ENST00000637304.1:c.2090A>T	ENSP00000490872.1:p.Glu697Val
ENST00000638007.1:c.2090A>T	ENSP00000490723.1:p.Glu697Val
ENST00000638087.1:c.2090A>T	ENSP00000490673.1:p.Glu697Val
ENST00000638128.1:c.1649A>T	ENSP00000490934.1:p.Glu550Val
ENST00000675069.1:c.-44A>T	ENSP00000502467.1:n.-44A>T
ENST00000675145.1:n.2974A>T
ENST00000303660.8:c.2423A>T	ENSP00000302501.4:p.Glu808Val
ENST00000409487.7:c.2426A>T	ENSP00000386854.2:p.Glu809Val
ENST00000419938.5:c.655+2438A>T	ENSP00000394777.2:n.655+2438A>T
ENST00000440875.5:c.1167+776A>T	ENSP00000475553.2:n.1167+776A>T
ENST00000539609.7:c.2354A>T	ENSP00000443792.2:p.Glu785Val
ENST00000558170.6:c.2426A>T	ENSP00000454157.1:p.Glu809Val
ENST00000627532.2:c.2426A>T	ENSP00000487174.1:p.Glu809Val
NM_001171653.1:c.2354A>T	NP_001165124.1:p.Glu785Val
NM_014795.3:c.2426A>T	NP_055610.1:p.Glu809Val
XM_006712881.2:c.2426A>T	XP_006712944.1:p.Glu809Val
XM_006712882.2:c.2426A>T	XP_006712945.1:p.Glu809Val
XM_011512231.1:c.2417A>T	XP_011510533.1:p.Glu806Val
XM_011512232.1:c.2405A>T	XP_011510534.1:p.Glu802Val
NM_014795.4:c.2426A>T MANE Select	NP_055610.1:p.Glu809Val
NM_001171653.2:c.2354A>T	NP_001165124.1:p.Glu785Val