Canonical Allele Identifier: CA2580097383

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2576
• ClinVar RCV Id: RCV000002687 ; RCV000002688
• dbSNP Id: rs2122211012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949213del , CM000681.2:g.44949213del	GRCh38
NC_000019.9:g.45452470del , CM000681.1:g.45452470del	GRCh37
NC_000019.8:g.50144310del	NCBI36
NG_008837.1:g.8228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.270del (APOC2) MANE Select	ENSP00000252490.5:p.Asp91ThrfsTer7
ENST00000252490.5:c.270del (APOC4-APOC2)	ENSP00000252490.4:p.Asp91ThrfsTer7
ENST00000585685.5:c.*1053del (APOC4-APOC2)	ENSP00000467185.1:n.*1053del
ENST00000585786.1:c.*349del (APOC2)	ENSP00000465001.1:n.*349del
ENST00000589057.5:c.501del (APOC4-APOC2)	ENSP00000468139.1:p.Asp168ThrfsTer7
ENST00000590360.2:c.270del (APOC2)	ENSP00000466775.1:p.Asp91ThrfsTer7
ENST00000591597.5:c.228del (APOC2)	ENSP00000476835.1:p.Asp77ThrfsTer7
ENST00000592257.5:c.*64del (APOC2)	ENSP00000477261.1:n.*64del
NM_000483.4:c.270del (APOC2)	NP_000474.2:p.Asp91ThrfsTer7
NR_037932.1:n.1477del (APOC4-APOC2)
NM_000483.5:c.270del (APOC2) MANE Select	NP_000474.2:p.Asp91ThrfsTer7