Canonical Allele Identifier: CA1898305

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 568984
• ClinVar RCV Id: RCV000689504
• dbSNP Id: rs757485792
• ExAC: 2:145156909 C / A
• gnomAD v2: 2-145156909-C-A
• gnomAD v4: 2-144399342-C-A
• MyVariant Identifiers: chr2:g.145156909C>A (hg19) ; chr2:g.144399342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399342C>A , CM000664.2:g.144399342C>A	GRCh38
NC_000002.11:g.145156909C>A , CM000664.1:g.145156909C>A	GRCh37
NC_000002.10:g.144873379C>A	NCBI36
NG_016431.1:g.126050G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1694G>T	ENSP00000508434.1:n.*1694G>T
ENST00000440875.6:c.1068G>T	ENSP00000475553.3:p.Gln356His
ENST00000627532.3:c.1845G>T MANE Select	ENSP00000487174.1:p.Gln615His
ENST00000636026.2:c.1845G>T	ENSP00000490776.1:p.Gln615His
ENST00000636179.1:n.1814G>T
ENST00000636413.1:c.1509G>T	ENSP00000490508.1:p.Gln503His
ENST00000636471.1:c.1920G>T	ENSP00000490317.1:p.Gln640His
ENST00000636732.2:c.*1562G>T	ENSP00000490175.1:n.*1562G>T
ENST00000636820.1:n.1945G>T
ENST00000637045.1:c.1509G>T	ENSP00000490141.1:p.Gln503His
ENST00000637304.1:c.1509G>T	ENSP00000490872.1:p.Gln503His
ENST00000638007.1:c.1509G>T	ENSP00000490723.1:p.Gln503His
ENST00000638087.1:c.1509G>T	ENSP00000490673.1:p.Gln503His
ENST00000638128.1:c.1068G>T	ENSP00000490934.1:p.Gln356His
ENST00000675069.1:c.-133-492G>T	ENSP00000502467.1:n.-133-492G>T
ENST00000675145.1:n.2393G>T
ENST00000303660.8:c.1842G>T	ENSP00000302501.4:p.Gln614His
ENST00000409487.7:c.1845G>T	ENSP00000386854.2:p.Gln615His
ENST00000419938.5:c.655+1857G>T	ENSP00000394777.2:n.655+1857G>T
ENST00000427902.5:c.1932G>T	ENSP00000395496.2:p.Gln644His
ENST00000440875.5:c.1167+195G>T	ENSP00000475553.2:n.1167+195G>T
ENST00000539609.7:c.1773G>T	ENSP00000443792.2:p.Gln591His
ENST00000558170.6:c.1845G>T	ENSP00000454157.1:p.Gln615His
ENST00000627532.2:c.1845G>T	ENSP00000487174.1:p.Gln615His
NM_001171653.1:c.1773G>T	NP_001165124.1:p.Gln591His
NM_014795.3:c.1845G>T	NP_055610.1:p.Gln615His
XM_006712881.2:c.1845G>T	XP_006712944.1:p.Gln615His
XM_006712882.2:c.1845G>T	XP_006712945.1:p.Gln615His
XM_011512231.1:c.1836G>T	XP_011510533.1:p.Gln612His
XM_011512232.1:c.1824G>T	XP_011510534.1:p.Gln608His
NM_014795.4:c.1845G>T MANE Select	NP_055610.1:p.Gln615His
NM_001171653.2:c.1773G>T	NP_001165124.1:p.Gln591His