Canonical Allele Identifier: CA406295243

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs1324823081
• gnomAD v3: 19-44949189-G-A
• gnomAD v4: 19-44949189-G-A
• COSMIC: COSM1666856
• MyVariant Identifiers: chr19:g.45452446G>A (hg19) ; chr19:g.44949189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949189G>A , CM000681.2:g.44949189G>A	GRCh38
NC_000019.9:g.45452446G>A , CM000681.1:g.45452446G>A	GRCh37
NC_000019.8:g.50144286G>A	NCBI36
NG_008837.1:g.8204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.246G>A (APOC2) MANE Select	ENSP00000252490.5:p.Met82Ile
ENST00000252490.5:c.246G>A (APOC4-APOC2)	ENSP00000252490.4:p.Met82Ile
ENST00000585685.5:c.*1029G>A (APOC4-APOC2)	ENSP00000467185.1:n.*1029G>A
ENST00000585786.1:c.*325G>A (APOC2)	ENSP00000465001.1:n.*325G>A
ENST00000589057.5:c.477G>A (APOC4-APOC2)	ENSP00000468139.1:p.Met159Ile
ENST00000590360.2:c.246G>A (APOC2)	ENSP00000466775.1:p.Met82Ile
ENST00000591597.5:c.204G>A (APOC2)	ENSP00000476835.1:p.Met68Ile
ENST00000592257.5:c.*40G>A (APOC2)	ENSP00000477261.1:n.*40G>A
NM_000483.4:c.246G>A (APOC2)	NP_000474.2:p.Met82Ile
NR_037932.1:n.1453G>A (APOC4-APOC2)
NM_000483.5:c.246G>A (APOC2) MANE Select	NP_000474.2:p.Met82Ile