Canonical Allele Identifier: CA348712066
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2651397
ClinVar RCV Id: RCV003436187
dbSNP Id: rs1390459414

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144399845G>A , CM000664.2:g.144399845G>A GRCh38
NC_000002.11:g.145157412G>A , CM000664.1:g.145157412G>A GRCh37
NC_000002.10:g.144873882G>A NCBI36
NG_016431.1:g.125547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000689298.1:c.*1191C>T ENSP00000508434.1:n.*1191C>T
ENST00000440875.6:c.565C>T ENSP00000475553.3:p.Leu189Phe
ENST00000627532.3:c.1342C>T MANE Select ENSP00000487174.1:p.Leu448Phe
ENST00000636026.2:c.1342C>T ENSP00000490776.1:p.Leu448Phe
ENST00000636179.1:n.1311C>T
ENST00000636413.1:c.1006C>T ENSP00000490508.1:p.Leu336Phe
ENST00000636471.1:c.1417C>T ENSP00000490317.1:p.Leu473Phe
ENST00000636732.2:c.*1059C>T ENSP00000490175.1:n.*1059C>T
ENST00000636820.1:n.1442C>T
ENST00000637045.1:c.1006C>T ENSP00000490141.1:p.Leu336Phe
ENST00000637267.2:c.1342C>T ENSP00000490293.2:p.Leu448Phe
ENST00000637304.1:c.1006C>T ENSP00000490872.1:p.Leu336Phe
ENST00000638007.1:c.1006C>T ENSP00000490723.1:p.Leu336Phe
ENST00000638087.1:c.1006C>T ENSP00000490673.1:p.Leu336Phe
ENST00000638128.1:c.565C>T ENSP00000490934.1:p.Leu189Phe
ENST00000675069.1:c.-133-995C>T ENSP00000502467.1:n.-133-995C>T
ENST00000675145.1:n.1890C>T
ENST00000303660.8:c.1339C>T ENSP00000302501.4:p.Leu447Phe
ENST00000409487.7:c.1342C>T ENSP00000386854.2:p.Leu448Phe
ENST00000419938.5:c.655+1354C>T ENSP00000394777.2:n.655+1354C>T
ENST00000427902.5:c.1429C>T ENSP00000395496.2:p.Leu477Phe
ENST00000440875.5:c.1153+174C>T ENSP00000475553.2:n.1153+174C>T
ENST00000539609.7:c.1270C>T ENSP00000443792.2:p.Leu424Phe
ENST00000558170.6:c.1342C>T ENSP00000454157.1:p.Leu448Phe
ENST00000627532.2:c.1342C>T ENSP00000487174.1:p.Leu448Phe
NM_001171653.1:c.1270C>T NP_001165124.1:p.Leu424Phe
NM_014795.3:c.1342C>T NP_055610.1:p.Leu448Phe
XM_006712881.2:c.1342C>T XP_006712944.1:p.Leu448Phe
XM_006712882.2:c.1342C>T XP_006712945.1:p.Leu448Phe
XM_011512231.1:c.1333C>T XP_011510533.1:p.Leu445Phe
XM_011512232.1:c.1321C>T XP_011510534.1:p.Leu441Phe
NM_014795.4:c.1342C>T MANE Select NP_055610.1:p.Leu448Phe
NM_001171653.2:c.1270C>T NP_001165124.1:p.Leu424Phe