Canonical Allele Identifier: CA348709913

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 2577425
• ClinVar RCV Id: RCV003324613
• MyVariant Identifiers: chr2:g.145156884T>A (hg19) ; chr2:g.144399317T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399317T>A , CM000664.2:g.144399317T>A	GRCh38
NC_000002.11:g.145156884T>A , CM000664.1:g.145156884T>A	GRCh37
NC_000002.10:g.144873354T>A	NCBI36
NG_016431.1:g.126075A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1719A>T	ENSP00000508434.1:n.*1719A>T
ENST00000440875.6:c.1093A>T	ENSP00000475553.3:p.Lys365Ter
ENST00000627532.3:c.1870A>T MANE Select	ENSP00000487174.1:p.Lys624Ter
ENST00000636026.2:c.1870A>T	ENSP00000490776.1:p.Lys624Ter
ENST00000636179.1:n.1839A>T
ENST00000636413.1:c.1534A>T	ENSP00000490508.1:p.Lys512Ter
ENST00000636471.1:c.1945A>T	ENSP00000490317.1:p.Lys649Ter
ENST00000636732.2:c.*1587A>T	ENSP00000490175.1:n.*1587A>T
ENST00000636820.1:n.1970A>T
ENST00000637045.1:c.1534A>T	ENSP00000490141.1:p.Lys512Ter
ENST00000637304.1:c.1534A>T	ENSP00000490872.1:p.Lys512Ter
ENST00000638007.1:c.1534A>T	ENSP00000490723.1:p.Lys512Ter
ENST00000638087.1:c.1534A>T	ENSP00000490673.1:p.Lys512Ter
ENST00000638128.1:c.1093A>T	ENSP00000490934.1:p.Lys365Ter
ENST00000675069.1:c.-133-467A>T	ENSP00000502467.1:n.-133-467A>T
ENST00000675145.1:n.2418A>T
ENST00000303660.8:c.1867A>T	ENSP00000302501.4:p.Lys623Ter
ENST00000409487.7:c.1870A>T	ENSP00000386854.2:p.Lys624Ter
ENST00000419938.5:c.655+1882A>T	ENSP00000394777.2:n.655+1882A>T
ENST00000427902.5:c.1957A>T	ENSP00000395496.2:p.Lys653Ter
ENST00000440875.5:c.1167+220A>T	ENSP00000475553.2:n.1167+220A>T
ENST00000539609.7:c.1798A>T	ENSP00000443792.2:p.Lys600Ter
ENST00000558170.6:c.1870A>T	ENSP00000454157.1:p.Lys624Ter
ENST00000627532.2:c.1870A>T	ENSP00000487174.1:p.Lys624Ter
NM_001171653.1:c.1798A>T	NP_001165124.1:p.Lys600Ter
NM_014795.3:c.1870A>T	NP_055610.1:p.Lys624Ter
XM_006712881.2:c.1870A>T	XP_006712944.1:p.Lys624Ter
XM_006712882.2:c.1870A>T	XP_006712945.1:p.Lys624Ter
XM_011512231.1:c.1861A>T	XP_011510533.1:p.Lys621Ter
XM_011512232.1:c.1849A>T	XP_011510534.1:p.Lys617Ter
NM_014795.4:c.1870A>T MANE Select	NP_055610.1:p.Lys624Ter
NM_001171653.2:c.1798A>T	NP_001165124.1:p.Lys600Ter