Canonical Allele Identifier: CA406292335

Gene: APOC2 APOC4-APOC2

Linked Data

• ClinVar Variation Id: 2447637
• ClinVar RCV Id: RCV003176548
• dbSNP Id: rs1212588079
• gnomAD v3: 19-44948728-A-G
• gnomAD v4: 19-44948728-A-G
• MyVariant Identifiers: chr19:g.45451985A>G (hg19) ; chr19:g.44948728A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44948728A>G , CM000681.2:g.44948728A>G	GRCh38
NC_000019.9:g.45451985A>G , CM000681.1:g.45451985A>G	GRCh37
NC_000019.8:g.50143825A>G	NCBI36
NG_008837.1:g.7743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252490.7:c.83A>G (APOC2) MANE Select	ENSP00000252490.5:p.Gln28Arg
ENST00000252490.5:c.83A>G (APOC4-APOC2)	ENSP00000252490.4:p.Gln28Arg
ENST00000585685.5:c.*866A>G (APOC4-APOC2)	ENSP00000467185.1:n.*866A>G
ENST00000585786.1:c.83A>G (APOC2)	ENSP00000465001.1:p.Gln28Arg
ENST00000589057.5:c.314A>G (APOC4-APOC2)	ENSP00000468139.1:p.Gln105Arg
ENST00000590360.2:c.83A>G (APOC2)	ENSP00000466775.1:p.Gln28Arg
ENST00000591597.5:c.83A>G (APOC2)	ENSP00000476835.1:p.Gln28Arg
ENST00000592257.5:c.56-35A>G (APOC2)	ENSP00000477261.1:n.56-35A>G
NM_000483.4:c.83A>G (APOC2)	NP_000474.2:p.Gln28Arg
NR_037932.1:n.1290A>G (APOC4-APOC2)
NM_000483.5:c.83A>G (APOC2) MANE Select	NP_000474.2:p.Gln28Arg