gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000709 (AMR)
Exomes Max Group AF
0.00001004 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948989A>C , CM000681.2:g.44948989A>C | GRCh38 |
| NC_000019.9:g.45452246A>C , CM000681.1:g.45452246A>C | GRCh37 |
| NC_000019.8:g.50144086A>C | NCBI36 |
| NG_008837.1:g.8004A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.215+129A>C (APOC2) MANE Select | ENSP00000252490.5:n.215+129A>C | |
| ENST00000252490.5:c.215+129A>C (APOC4-APOC2) | ENSP00000252490.4:n.215+129A>C | |
| ENST00000585685.5:c.*998+129A>C (APOC4-APOC2) | ENSP00000467185.1:n.*998+129A>C | |
| ENST00000585786.1:c.*125A>C (APOC2) | ENSP00000465001.1:n.*125A>C | |
| ENST00000589057.5:c.446+129A>C (APOC4-APOC2) | ENSP00000468139.1:n.446+129A>C | |
| ENST00000590360.2:c.215+129A>C (APOC2) | ENSP00000466775.1:n.215+129A>C | |
| ENST00000591597.5:c.174-170A>C (APOC2) | ENSP00000476835.1:n.174-170A>C | |
| ENST00000592257.5:c.*9+129A>C (APOC2) | ENSP00000477261.1:n.*9+129A>C | |
| NM_000483.4:c.215+129A>C (APOC2) | NP_000474.2:n.215+129A>C | |
| NR_037932.1:n.1422+129A>C (APOC4-APOC2) | ||
| NM_000483.5:c.215+129A>C (APOC2) MANE Select | NP_000474.2:n.215+129A>C |