Canonical Allele Identifier: CA406295208

Gene: APOC2 APOC4-APOC2

Linked Data

• gnomAD v4: 19-44949182-C-A
• MyVariant Identifiers: chr19:g.45452439C>A (hg19) ; chr19:g.44949182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949182C>A , CM000681.2:g.44949182C>A	GRCh38
NC_000019.9:g.45452439C>A , CM000681.1:g.45452439C>A	GRCh37
NC_000019.8:g.50144279C>A	NCBI36
NG_008837.1:g.8197C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.239C>A (APOC2) MANE Select	ENSP00000252490.5:p.Ala80Glu
ENST00000252490.5:c.239C>A (APOC4-APOC2)	ENSP00000252490.4:p.Ala80Glu
ENST00000585685.5:c.*1022C>A (APOC4-APOC2)	ENSP00000467185.1:n.*1022C>A
ENST00000585786.1:c.*318C>A (APOC2)	ENSP00000465001.1:n.*318C>A
ENST00000589057.5:c.470C>A (APOC4-APOC2)	ENSP00000468139.1:p.Ala157Glu
ENST00000590360.2:c.239C>A (APOC2)	ENSP00000466775.1:p.Ala80Glu
ENST00000591597.5:c.197C>A (APOC2)	ENSP00000476835.1:p.Ala66Glu
ENST00000592257.5:c.*33C>A (APOC2)	ENSP00000477261.1:n.*33C>A
NM_000483.4:c.239C>A (APOC2)	NP_000474.2:p.Ala80Glu
NR_037932.1:n.1446C>A (APOC4-APOC2)
NM_000483.5:c.239C>A (APOC2) MANE Select	NP_000474.2:p.Ala80Glu