Canonical Allele Identifier: CA9506642

Gene: APOC2 APOC4-APOC2

Linked Data

• dbSNP Id: rs533467250
• ExAC: 19:45452444 A / G
• gnomAD: 19:45452444 A / G
• MyVariant Identifiers: chr19:g.45452444A>G (hg19) ; chr19:g.44949187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44949187A>G , CM000681.2:g.44949187A>G	GRCh38
NC_000019.9:g.45452444A>G , CM000681.1:g.45452444A>G	GRCh37
NC_000019.8:g.50144284A>G	NCBI36
NG_008837.1:g.8202A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252490.7:c.244A>G (APOC2) MANE Select	ENSP00000252490.5:p.Met82Val
ENST00000252490.5:c.244A>G (APOC4-APOC2)	ENSP00000252490.4:p.Met82Val
ENST00000585685.5:c.*1027A>G (APOC4-APOC2)	ENSP00000467185.1:n.*1027A>G
ENST00000585786.1:c.*323A>G (APOC2)	ENSP00000465001.1:n.*323A>G
ENST00000589057.5:c.475A>G (APOC4-APOC2)	ENSP00000468139.1:p.Met159Val
ENST00000590360.2:c.244A>G (APOC2)	ENSP00000466775.1:p.Met82Val
ENST00000591597.5:c.202A>G (APOC2)	ENSP00000476835.1:p.Met68Val
ENST00000592257.5:c.*38A>G (APOC2)	ENSP00000477261.1:n.*38A>G
NM_000483.4:c.244A>G (APOC2)	NP_000474.2:p.Met82Val
NR_037932.1:n.1451A>G (APOC4-APOC2)
NM_000483.5:c.244A>G (APOC2) MANE Select	NP_000474.2:p.Met82Val