Canonical Allele Identifier: CA274525
Gene: ZEB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189282
ClinVar RCV Id: RCV000169716
dbSNP Id: rs786204816

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.144389699_144389708del , CM000664.2:g.144389699_144389708del GRCh38
NC_000002.11:g.145147266_145147275del , CM000664.1:g.145147266_145147275del GRCh37
NC_000002.10:g.144863736_144863745del NCBI36
NG_016431.1:g.135687_135696del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689298.1:c.*3240_*3249del ENSP00000508434.1:n.*3240_*3249del
ENST00000440875.6:c.2614_2623del ENSP00000475553.3:p.Pro872AlafsTer?
ENST00000627532.3:c.3391_3400del MANE Select ENSP00000487174.1:p.Pro1131AlafsTer?
ENST00000636026.2:c.3279_3288del ENSP00000490776.1:p.Cys1093TrpfsTer?
ENST00000636179.1:n.3360_3369del
ENST00000636413.1:c.3055_3064del ENSP00000490508.1:p.Pro1019AlafsTer?
ENST00000636471.1:c.3466_3475del ENSP00000490317.1:p.Pro1156AlafsTer?
ENST00000636732.2:c.*3108_*3117del ENSP00000490175.1:n.*3108_*3117del
ENST00000636820.1:n.3491_3500del
ENST00000637045.1:c.3055_3064del ENSP00000490141.1:p.Pro1019AlafsTer?
ENST00000637304.1:c.3055_3064del ENSP00000490872.1:p.Pro1019AlafsTer?
ENST00000638007.1:c.3055_3064del ENSP00000490723.1:p.Pro1019AlafsTer?
ENST00000638087.1:c.3055_3064del ENSP00000490673.1:p.Pro1019AlafsTer?
ENST00000638128.1:c.2614_2623del ENSP00000490934.1:p.Pro872AlafsTer?
ENST00000639389.1:c.151+6707_151+6716del ENSP00000492572.1:n.151+6707_151+6716del
ENST00000647488.1:c.611_620del ENSP00000494820.1:n.611_620del
ENST00000675069.1:c.922_931del ENSP00000502467.1:p.Pro308AlafsTer?
ENST00000303660.8:c.3388_3397del ENSP00000302501.4:p.Pro1130AlafsTer?
ENST00000409487.7:c.3391_3400del ENSP00000386854.2:p.Pro1131AlafsTer?
ENST00000419938.5:c.656-823_656-814del ENSP00000394777.2:n.656-823_656-814del
ENST00000539609.7:c.3319_3328del ENSP00000443792.2:p.Pro1107AlafsTer?
ENST00000558170.6:c.3391_3400del ENSP00000454157.1:p.Pro1131AlafsTer?
ENST00000627532.2:c.3391_3400del ENSP00000487174.1:p.Pro1131AlafsTer?
NM_001171653.1:c.3319_3328del NP_001165124.1:p.Pro1107AlafsTer?
NM_014795.3:c.3391_3400del NP_055610.1:p.Pro1131AlafsTer?
XM_006712881.2:c.3391_3400del XP_006712944.1:p.Pro1131AlafsTer?
XM_006712882.2:c.3391_3400del XP_006712945.1:p.Pro1131AlafsTer?
XM_011512231.1:c.3382_3391del XP_011510533.1:p.Pro1128AlafsTer?
XM_011512232.1:c.3370_3379del XP_011510534.1:p.Pro1124AlafsTer?
NM_014795.4:c.3391_3400del MANE Select NP_055610.1:p.Pro1131AlafsTer?
NM_001171653.2:c.3319_3328del NP_001165124.1:p.Pro1107AlafsTer?