Canonical Allele Identifier: CA1898350

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 516113
• ClinVar RCV Id: RCV000611300
• dbSNP Id: rs775301918
• ExAC: 2:145157432 A / C
• gnomAD v2: 2-145157432-A-C
• gnomAD v3: 2-144399865-A-C
• gnomAD v4: 2-144399865-A-C
• MyVariant Identifiers: chr2:g.145157432A>C (hg19) ; chr2:g.144399865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399865A>C , CM000664.2:g.144399865A>C	GRCh38
NC_000002.11:g.145157432A>C , CM000664.1:g.145157432A>C	GRCh37
NC_000002.10:g.144873902A>C	NCBI36
NG_016431.1:g.125527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1171T>G	ENSP00000508434.1:n.*1171T>G
ENST00000440875.6:c.545T>G	ENSP00000475553.3:p.Val182Gly
ENST00000627532.3:c.1322T>G MANE Select	ENSP00000487174.1:p.Val441Gly
ENST00000636026.2:c.1322T>G	ENSP00000490776.1:p.Val441Gly
ENST00000636179.1:n.1291T>G
ENST00000636413.1:c.986T>G	ENSP00000490508.1:p.Val329Gly
ENST00000636471.1:c.1397T>G	ENSP00000490317.1:p.Val466Gly
ENST00000636732.2:c.*1039T>G	ENSP00000490175.1:n.*1039T>G
ENST00000636820.1:n.1422T>G
ENST00000637045.1:c.986T>G	ENSP00000490141.1:p.Val329Gly
ENST00000637267.2:c.1322T>G	ENSP00000490293.2:p.Val441Gly
ENST00000637304.1:c.986T>G	ENSP00000490872.1:p.Val329Gly
ENST00000638007.1:c.986T>G	ENSP00000490723.1:p.Val329Gly
ENST00000638087.1:c.986T>G	ENSP00000490673.1:p.Val329Gly
ENST00000638128.1:c.545T>G	ENSP00000490934.1:p.Val182Gly
ENST00000675069.1:c.-133-1015T>G	ENSP00000502467.1:n.-133-1015T>G
ENST00000675145.1:n.1870T>G
ENST00000303660.8:c.1319T>G	ENSP00000302501.4:p.Val440Gly
ENST00000409487.7:c.1322T>G	ENSP00000386854.2:p.Val441Gly
ENST00000419938.5:c.655+1334T>G	ENSP00000394777.2:n.655+1334T>G
ENST00000427902.5:c.1409T>G	ENSP00000395496.2:p.Val470Gly
ENST00000440875.5:c.1153+154T>G	ENSP00000475553.2:n.1153+154T>G
ENST00000539609.7:c.1250T>G	ENSP00000443792.2:p.Val417Gly
ENST00000558170.6:c.1322T>G	ENSP00000454157.1:p.Val441Gly
ENST00000627532.2:c.1322T>G	ENSP00000487174.1:p.Val441Gly
NM_001171653.1:c.1250T>G	NP_001165124.1:p.Val417Gly
NM_014795.3:c.1322T>G	NP_055610.1:p.Val441Gly
XM_006712881.2:c.1322T>G	XP_006712944.1:p.Val441Gly
XM_006712882.2:c.1322T>G	XP_006712945.1:p.Val441Gly
XM_011512231.1:c.1313T>G	XP_011510533.1:p.Val438Gly
XM_011512232.1:c.1301T>G	XP_011510534.1:p.Val434Gly
NM_014795.4:c.1322T>G MANE Select	NP_055610.1:p.Val441Gly
NM_001171653.2:c.1250T>G	NP_001165124.1:p.Val417Gly