gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948488C>A , CM000681.2:g.44948488C>A | GRCh38 |
| NC_000019.9:g.45451745C>A , CM000681.1:g.45451745C>A | GRCh37 |
| NC_000019.8:g.50143585C>A | NCBI36 |
| NG_008837.1:g.7503C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.10C>A (APOC2) MANE Select | ENSP00000252490.5:p.Arg4= | |
| ENST00000252490.5:c.10C>A (APOC4-APOC2) | ENSP00000252490.4:p.Arg4= | |
| ENST00000585685.5:c.*793C>A (APOC4-APOC2) | ENSP00000467185.1:n.*793C>A | |
| ENST00000585786.1:c.10C>A (APOC2) | ENSP00000465001.1:p.Arg4= | |
| ENST00000589057.5:c.241C>A (APOC4-APOC2) | ENSP00000468139.1:p.Arg81= | |
| ENST00000590360.2:c.10C>A (APOC2) | ENSP00000466775.1:p.Arg4= | |
| ENST00000591597.5:c.10C>A (APOC2) | ENSP00000476835.1:p.Arg4= | |
| ENST00000592257.5:c.10C>A (APOC2) | ENSP00000477261.1:p.Arg4= | |
| NM_000483.4:c.10C>A (APOC2) | NP_000474.2:p.Arg4= | |
| NR_037932.1:n.1217C>A (APOC4-APOC2) | ||
| NM_000483.5:c.10C>A (APOC2) MANE Select | NP_000474.2:p.Arg4= |