Canonical Allele Identifier: CA115625
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583
dbSNP Id: rs120074115

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948787T>C , CM000681.2:g.44948787T>C GRCh38
NC_000019.9:g.45452044T>C , CM000681.1:g.45452044T>C GRCh37
NC_000019.8:g.50143884T>C NCBI36
NG_008837.1:g.7802T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252490.7:c.142T>C MANE Select ENSP00000252490.5:p.Trp48Arg
ENST00000252490.5:c.142T>C ENSP00000252490.4:p.Trp48Arg
ENST00000585685.5:c.*925T>C ENSP00000467185.1:p.=
ENST00000585786.1:c.142T>C ENSP00000465001.1:p.Trp48Arg
ENST00000589057.5:c.373T>C ENSP00000468139.1:p.Trp125Arg
ENST00000590360.2:c.142T>C ENSP00000466775.1:p.Trp48Arg
ENST00000591597.5:c.142T>C ENSP00000476835.1:p.Trp48Arg
ENST00000592257.5:c.80T>C ENSP00000477261.1:p.Leu27Pro
NM_000483.4:c.142T>C (APOC2) NP_000474.2:p.Trp48Arg
NR_037932.1:n.1349T>C (APOC4-APOC2)
NM_000483.5:c.142T>C (APOC2) MANE Select NP_000474.2:p.Trp48Arg