Canonical Allele Identifier: CA9506618
Gene: APOC2 HGNC NCBI
APOC4-APOC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44948840C>A
GRCh37 chr19:g.45452097C>A
gnomAD v2:
19:45452097 C / A
gnomAD v3:
19:44948840 C / A
gnomAD v4:
chr19-44948840-C-A
Joint Max Group AF 0.00036779 (NFE)
Genomes Max Group AF 0.000182 (NFE)
Exomes Max Group AF 0.0003742 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44948840C>A , CM000681.2:g.44948840C>A GRCh38
NC_000019.9:g.45452097C>A , CM000681.1:g.45452097C>A GRCh37
NC_000019.8:g.50143937C>A NCBI36
NG_008837.1:g.7855C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252490.7:c.195C>A (APOC2) MANE Select ENSP00000252490.5:p.Pro65=
ENST00000252490.5:c.195C>A (APOC4-APOC2) ENSP00000252490.4:p.Pro65=
ENST00000585685.5:c.*978C>A (APOC4-APOC2) ENSP00000467185.1:n.*978C>A
ENST00000585786.1:c.195C>A (APOC2) ENSP00000465001.1:p.Pro65=
ENST00000589057.5:c.426C>A (APOC4-APOC2) ENSP00000468139.1:p.Pro142=
ENST00000590360.2:c.195C>A (APOC2) ENSP00000466775.1:p.Pro65=
ENST00000591597.5:c.173+22C>A (APOC2) ENSP00000476835.1:n.173+22C>A
ENST00000592257.5:c.133C>A (APOC2) ENSP00000477261.1:p.Arg45Ser
NM_000483.4:c.195C>A (APOC2) NP_000474.2:p.Pro65=
NR_037932.1:n.1402C>A (APOC4-APOC2)
NM_000483.5:c.195C>A (APOC2) MANE Select NP_000474.2:p.Pro65=
Search 100 bp 5'
Search 100 bp 3'