Canonical Allele Identifier: CA57554856

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 1043093
• ClinVar RCV Id: RCV001347151
• dbSNP Id: rs895859447
• gnomAD v4: 2-144398522-A-G
• MyVariant Identifiers: chr2:g.145156089A>G (hg19) ; chr2:g.144398522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398522A>G , CM000664.2:g.144398522A>G	GRCh38
NC_000002.11:g.145156089A>G , CM000664.1:g.145156089A>G	GRCh37
NC_000002.10:g.144872559A>G	NCBI36
NG_016431.1:g.126870T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2514T>C	ENSP00000508434.1:n.*2514T>C
ENST00000440875.6:c.1888T>C	ENSP00000475553.3:p.Phe630Leu
ENST00000627532.3:c.2665T>C MANE Select	ENSP00000487174.1:p.Phe889Leu
ENST00000636026.2:c.2665T>C	ENSP00000490776.1:p.Phe889Leu
ENST00000636179.1:n.2634T>C
ENST00000636413.1:c.2329T>C	ENSP00000490508.1:p.Phe777Leu
ENST00000636471.1:c.2740T>C	ENSP00000490317.1:p.Phe914Leu
ENST00000636732.2:c.*2382T>C	ENSP00000490175.1:n.*2382T>C
ENST00000636820.1:n.2765T>C
ENST00000637045.1:c.2329T>C	ENSP00000490141.1:p.Phe777Leu
ENST00000637304.1:c.2329T>C	ENSP00000490872.1:p.Phe777Leu
ENST00000638007.1:c.2329T>C	ENSP00000490723.1:p.Phe777Leu
ENST00000638087.1:c.2329T>C	ENSP00000490673.1:p.Phe777Leu
ENST00000638128.1:c.1888T>C	ENSP00000490934.1:p.Phe630Leu
ENST00000675069.1:c.196T>C	ENSP00000502467.1:p.Phe66Leu
ENST00000303660.8:c.2662T>C	ENSP00000302501.4:p.Phe888Leu
ENST00000409487.7:c.2665T>C	ENSP00000386854.2:p.Phe889Leu
ENST00000419938.5:c.655+2677T>C	ENSP00000394777.2:n.655+2677T>C
ENST00000440875.5:c.1168-594T>C	ENSP00000475553.2:n.1168-594T>C
ENST00000539609.7:c.2593T>C	ENSP00000443792.2:p.Phe865Leu
ENST00000558170.6:c.2665T>C	ENSP00000454157.1:p.Phe889Leu
ENST00000627532.2:c.2665T>C	ENSP00000487174.1:p.Phe889Leu
NM_001171653.1:c.2593T>C	NP_001165124.1:p.Phe865Leu
NM_014795.3:c.2665T>C	NP_055610.1:p.Phe889Leu
XM_006712881.2:c.2665T>C	XP_006712944.1:p.Phe889Leu
XM_006712882.2:c.2665T>C	XP_006712945.1:p.Phe889Leu
XM_011512231.1:c.2656T>C	XP_011510533.1:p.Phe886Leu
XM_011512232.1:c.2644T>C	XP_011510534.1:p.Phe882Leu
NM_014795.4:c.2665T>C MANE Select	NP_055610.1:p.Phe889Leu
NM_001171653.2:c.2593T>C	NP_001165124.1:p.Phe865Leu