Canonical Allele Identifier: CA247713

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 198861
• ClinVar RCV Id: RCV000180320 ; RCV000642259
• dbSNP Id: rs794727922
• gnomAD v4: 2-144398546-T-G
• MyVariant Identifiers: chr2:g.145156113T>G (hg19) ; chr2:g.144398546T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144398546T>G , CM000664.2:g.144398546T>G	GRCh38
NC_000002.11:g.145156113T>G , CM000664.1:g.145156113T>G	GRCh37
NC_000002.10:g.144872583T>G	NCBI36
NG_016431.1:g.126846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*2490A>C	ENSP00000508434.1:n.*2490A>C
ENST00000440875.6:c.1864A>C	ENSP00000475553.3:p.Asn622His
ENST00000627532.3:c.2641A>C MANE Select	ENSP00000487174.1:p.Asn881His
ENST00000636026.2:c.2641A>C	ENSP00000490776.1:p.Asn881His
ENST00000636179.1:n.2610A>C
ENST00000636413.1:c.2305A>C	ENSP00000490508.1:p.Asn769His
ENST00000636471.1:c.2716A>C	ENSP00000490317.1:p.Asn906His
ENST00000636732.2:c.*2358A>C	ENSP00000490175.1:n.*2358A>C
ENST00000636820.1:n.2741A>C
ENST00000637045.1:c.2305A>C	ENSP00000490141.1:p.Asn769His
ENST00000637304.1:c.2305A>C	ENSP00000490872.1:p.Asn769His
ENST00000638007.1:c.2305A>C	ENSP00000490723.1:p.Asn769His
ENST00000638087.1:c.2305A>C	ENSP00000490673.1:p.Asn769His
ENST00000638128.1:c.1864A>C	ENSP00000490934.1:p.Asn622His
ENST00000675069.1:c.172A>C	ENSP00000502467.1:p.Asn58His
ENST00000303660.8:c.2638A>C	ENSP00000302501.4:p.Asn880His
ENST00000409487.7:c.2641A>C	ENSP00000386854.2:p.Asn881His
ENST00000419938.5:c.655+2653A>C	ENSP00000394777.2:n.655+2653A>C
ENST00000440875.5:c.1168-618A>C	ENSP00000475553.2:n.1168-618A>C
ENST00000539609.7:c.2569A>C	ENSP00000443792.2:p.Asn857His
ENST00000558170.6:c.2641A>C	ENSP00000454157.1:p.Asn881His
ENST00000627532.2:c.2641A>C	ENSP00000487174.1:p.Asn881His
NM_001171653.1:c.2569A>C	NP_001165124.1:p.Asn857His
NM_014795.3:c.2641A>C	NP_055610.1:p.Asn881His
XM_006712881.2:c.2641A>C	XP_006712944.1:p.Asn881His
XM_006712882.2:c.2641A>C	XP_006712945.1:p.Asn881His
XM_011512231.1:c.2632A>C	XP_011510533.1:p.Asn878His
XM_011512232.1:c.2620A>C	XP_011510534.1:p.Asn874His
NM_014795.4:c.2641A>C MANE Select	NP_055610.1:p.Asn881His
NM_001171653.2:c.2569A>C	NP_001165124.1:p.Asn857His