Canonical Allele Identifier: CA348714673

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 657562
• ClinVar RCV Id: RCV000814192
• dbSNP Id: rs1437414345
• gnomAD v2: 2-145161539-C-T
• gnomAD v4: 2-144403972-C-T
• MyVariant Identifiers: chr2:g.145161539C>T (hg19) ; chr2:g.144403972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144403972C>T , CM000664.2:g.144403972C>T	GRCh38
NC_000002.11:g.145161539C>T , CM000664.1:g.145161539C>T	GRCh37
NC_000002.10:g.144878009C>T	NCBI36
NG_016431.1:g.121420G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000689298.1:c.*600G>A	ENSP00000508434.1:n.*600G>A
ENST00000440875.6:c.-27G>A	ENSP00000475553.3:n.-27G>A
ENST00000627532.3:c.751G>A MANE Select	ENSP00000487174.1:p.Ala251Thr
ENST00000636026.2:c.751G>A	ENSP00000490776.1:p.Ala251Thr
ENST00000636179.1:n.720G>A
ENST00000636413.1:c.415G>A	ENSP00000490508.1:p.Ala139Thr
ENST00000636471.1:c.751G>A	ENSP00000490317.1:p.Ala251Thr
ENST00000636732.2:c.*468G>A	ENSP00000490175.1:n.*468G>A
ENST00000636820.1:n.851G>A
ENST00000637045.1:c.415G>A	ENSP00000490141.1:p.Ala139Thr
ENST00000637267.2:c.751G>A	ENSP00000490293.2:p.Ala251Thr
ENST00000637304.1:c.415G>A	ENSP00000490872.1:p.Ala139Thr
ENST00000638007.1:c.415G>A	ENSP00000490723.1:p.Ala139Thr
ENST00000638087.1:c.415G>A	ENSP00000490673.1:p.Ala139Thr
ENST00000638128.1:c.-27G>A	ENSP00000490934.1:n.-27G>A
ENST00000675069.1:c.-133-5122G>A	ENSP00000502467.1:n.-133-5122G>A
ENST00000303660.8:c.748G>A	ENSP00000302501.4:p.Ala250Thr
ENST00000392861.6:c.835G>A	ENSP00000376601.3:p.Ala279Thr
ENST00000409487.7:c.751G>A	ENSP00000386854.2:p.Ala251Thr
ENST00000419938.5:c.490G>A	ENSP00000394777.2:p.Ala164Thr
ENST00000427902.5:c.838G>A	ENSP00000395496.2:p.Ala280Thr
ENST00000440875.5:c.736G>A	ENSP00000475553.2:p.Ala246Thr
ENST00000539609.7:c.679G>A	ENSP00000443792.2:p.Ala227Thr
ENST00000558170.6:c.751G>A	ENSP00000454157.1:p.Ala251Thr
ENST00000627532.2:c.751G>A	ENSP00000487174.1:p.Ala251Thr
NM_001171653.1:c.679G>A	NP_001165124.1:p.Ala227Thr
NM_014795.3:c.751G>A	NP_055610.1:p.Ala251Thr
XM_006712881.2:c.751G>A	XP_006712944.1:p.Ala251Thr
XM_006712882.2:c.751G>A	XP_006712945.1:p.Ala251Thr
XM_011512231.1:c.742G>A	XP_011510533.1:p.Ala248Thr
XM_011512232.1:c.730G>A	XP_011510534.1:p.Ala244Thr
NM_014795.4:c.751G>A MANE Select	NP_055610.1:p.Ala251Thr
NM_001171653.2:c.679G>A	NP_001165124.1:p.Ala227Thr