Canonical Allele Identifier: CA1898339

Gene: ZEB2

Linked Data

• ClinVar Variation Id: 534642
• ClinVar RCV Id: RCV000642265
• dbSNP Id: rs778246270
• ExAC: 2:145157328 T / G
• gnomAD v2: 2-145157328-T-G
• gnomAD v4: 2-144399761-T-G
• MyVariant Identifiers: chr2:g.145157328T>G (hg19) ; chr2:g.144399761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.144399761T>G , CM000664.2:g.144399761T>G	GRCh38
NC_000002.11:g.145157328T>G , CM000664.1:g.145157328T>G	GRCh37
NC_000002.10:g.144873798T>G	NCBI36
NG_016431.1:g.125631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689298.1:c.*1275A>C	ENSP00000508434.1:n.*1275A>C
ENST00000440875.6:c.649A>C	ENSP00000475553.3:p.Met217Leu
ENST00000627532.3:c.1426A>C MANE Select	ENSP00000487174.1:p.Met476Leu
ENST00000636026.2:c.1426A>C	ENSP00000490776.1:p.Met476Leu
ENST00000636179.1:n.1395A>C
ENST00000636413.1:c.1090A>C	ENSP00000490508.1:p.Met364Leu
ENST00000636471.1:c.1501A>C	ENSP00000490317.1:p.Met501Leu
ENST00000636732.2:c.*1143A>C	ENSP00000490175.1:n.*1143A>C
ENST00000636820.1:n.1526A>C
ENST00000637045.1:c.1090A>C	ENSP00000490141.1:p.Met364Leu
ENST00000637267.2:c.1426A>C	ENSP00000490293.2:p.Met476Leu
ENST00000637304.1:c.1090A>C	ENSP00000490872.1:p.Met364Leu
ENST00000638007.1:c.1090A>C	ENSP00000490723.1:p.Met364Leu
ENST00000638087.1:c.1090A>C	ENSP00000490673.1:p.Met364Leu
ENST00000638128.1:c.649A>C	ENSP00000490934.1:p.Met217Leu
ENST00000675069.1:c.-133-911A>C	ENSP00000502467.1:n.-133-911A>C
ENST00000675145.1:n.1974A>C
ENST00000303660.8:c.1423A>C	ENSP00000302501.4:p.Met475Leu
ENST00000409487.7:c.1426A>C	ENSP00000386854.2:p.Met476Leu
ENST00000419938.5:c.655+1438A>C	ENSP00000394777.2:n.655+1438A>C
ENST00000427902.5:c.1513A>C	ENSP00000395496.2:p.Met505Leu
ENST00000440875.5:c.1154-211A>C	ENSP00000475553.2:n.1154-211A>C
ENST00000539609.7:c.1354A>C	ENSP00000443792.2:p.Met452Leu
ENST00000558170.6:c.1426A>C	ENSP00000454157.1:p.Met476Leu
ENST00000627532.2:c.1426A>C	ENSP00000487174.1:p.Met476Leu
NM_001171653.1:c.1354A>C	NP_001165124.1:p.Met452Leu
NM_014795.3:c.1426A>C	NP_055610.1:p.Met476Leu
XM_006712881.2:c.1426A>C	XP_006712944.1:p.Met476Leu
XM_006712882.2:c.1426A>C	XP_006712945.1:p.Met476Leu
XM_011512231.1:c.1417A>C	XP_011510533.1:p.Met473Leu
XM_011512232.1:c.1405A>C	XP_011510534.1:p.Met469Leu
NM_014795.4:c.1426A>C MANE Select	NP_055610.1:p.Met476Leu
NM_001171653.2:c.1354A>C	NP_001165124.1:p.Met452Leu