Canonical Allele Identifier: CA16621217
Gene: AFF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424137
ClinVar RCV Id: RCV000482948
dbSNP Id: rs1064796818

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.148980742del , CM000685.2:g.148980742del GRCh38
NC_000023.10:g.148062272del , CM000685.1:g.148062272del GRCh37
NC_000023.9:g.147869956del NCBI36
NG_016313.1:g.485134del
NG_016313.2:g.485124del

Transcript Alleles

HGVS Amino-acid change
ENST00000370460.7:c.3575del MANE Select ENSP00000359489.2:p.Asn1192MetfsTer13
ENST00000671877.1:n.2588del
ENST00000286437.7:c.2498del ENSP00000286437.5:p.Asn833MetfsTer13
ENST00000342251.7:c.3470del ENSP00000345459.4:p.Asn1157MetfsTer13
ENST00000370457.9:c.3470del ENSP00000359486.6:p.Asn1157MetfsTer13
ENST00000370460.6:c.3575del ENSP00000359489.2:p.Asn1192MetfsTer13
NM_001169122.1:c.3470del NP_001162593.1:p.Asn1157MetfsTer13
NM_001169123.1:c.3545del NP_001162594.1:p.Asn1182MetfsTer13
NM_001169124.1:c.3470del NP_001162595.1:p.Asn1157MetfsTer13
NM_001169125.1:c.3458del NP_001162596.1:p.Asn1153MetfsTer13
NM_001170628.1:c.2498del NP_001164099.1:p.Asn833MetfsTer13
NM_002025.3:c.3575del NP_002016.2:p.Asn1192MetfsTer13
NM_001169122.2:c.3470del NP_001162593.1:p.Asn1157MetfsTer13
NM_001169123.2:c.3545del NP_001162594.1:p.Asn1182MetfsTer13
NM_001169124.2:c.3470del NP_001162595.1:p.Asn1157MetfsTer13
NM_001169125.2:c.3458del NP_001162596.1:p.Asn1153MetfsTer13
NM_002025.4:c.3575del MANE Select NP_002016.2:p.Asn1192MetfsTer13