Canonical Allele Identifier: CA115623

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2582
• ClinVar RCV Id: RCV002399306
• dbSNP Id: rs5122
• ExAC: 19:45452080 G / A
• gnomAD v2: 19-45452080-G-A
• gnomAD v3: 19-44948823-G-A
• gnomAD v4: 19-44948823-G-A
• MyVariant Identifiers: chr19:g.45452080G>A (hg19) ; chr19:g.44948823G>A (hg38)
• PubMed: PMID:8490626

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948823G>A , CM000681.2:g.44948823G>A	GRCh38
NC_000019.9:g.45452080G>A , CM000681.1:g.45452080G>A	GRCh37
NC_000019.8:g.50143920G>A	NCBI36
NG_008837.1:g.7838G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.178G>A (APOC2) MANE Select	ENSP00000252490.5:p.Glu60Lys
ENST00000252490.5:c.178G>A (APOC4-APOC2)	ENSP00000252490.4:p.Glu60Lys
ENST00000585685.5:c.*961G>A (APOC4-APOC2)	ENSP00000467185.1:n.*961G>A
ENST00000585786.1:c.178G>A (APOC2)	ENSP00000465001.1:p.Glu60Lys
ENST00000589057.5:c.409G>A (APOC4-APOC2)	ENSP00000468139.1:p.Glu137Lys
ENST00000590360.2:c.178G>A (APOC2)	ENSP00000466775.1:p.Glu60Lys
ENST00000591597.5:c.173+5G>A (APOC2)	ENSP00000476835.1:n.173+5G>A
ENST00000592257.5:c.116G>A (APOC2)	ENSP00000477261.1:p.Arg39Gln
NM_000483.4:c.178G>A (APOC2)	NP_000474.2:p.Glu60Lys
NR_037932.1:n.1385G>A (APOC4-APOC2)
NM_000483.5:c.178G>A (APOC2) MANE Select	NP_000474.2:p.Glu60Lys