Canonical Allele Identifier: CA9506617
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280159
ClinVar RCV Id: RCV000345386

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948841_44948842del , CM000681.2:g.44948841_44948842del GRCh38
NC_000019.9:g.45452098_45452099del , CM000681.1:g.45452098_45452099del GRCh37
NC_000019.8:g.50143938_50143939del NCBI36
NG_008837.1:g.7856_7857del

Transcript Alleles

HGVS Amino-acid change
ENST00000252490.7:c.196_197del MANE Select ENSP00000252490.5:p.Ala66CysfsTer3
ENST00000252490.5:c.196_197del ENSP00000252490.4:p.Ala66CysfsTer3
ENST00000585685.5:c.*979_*980del ENSP00000467185.1:p.=
ENST00000585786.1:c.196_197del ENSP00000465001.1:p.Ala66CysfsTer3
ENST00000589057.5:c.427_428del ENSP00000468139.1:p.Ala143CysfsTer3
ENST00000590360.2:c.196_197del ENSP00000466775.1:p.Ala66CysfsTer3
ENST00000591597.5:c.173+23_173+24del ENSP00000476835.1:p.=
ENST00000592257.5:c.134_135del ENSP00000477261.1:p.Arg45LeufsTer2
NM_000483.4:c.196_197del (APOC2) NP_000474.2:p.Ala66CysfsTer3
NR_037932.1:n.1403_1404del (APOC4-APOC2)
NM_000483.5:c.196_197del (APOC2) MANE Select NP_000474.2:p.Ala66CysfsTer3