gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000132 (NFE)
Genomes Max Group AF
0.0000051 (NFE)
Exomes Max Group AF
7.6e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949112A>T , CM000681.2:g.44949112A>T | GRCh38 |
| NC_000019.9:g.45452369A>T , CM000681.1:g.45452369A>T | GRCh37 |
| NC_000019.8:g.50144209A>T | NCBI36 |
| NG_008837.1:g.8127A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.216-47A>T (APOC2) MANE Select | ENSP00000252490.5:n.216-47A>T | |
| ENST00000252490.5:c.216-47A>T (APOC4-APOC2) | ENSP00000252490.4:n.216-47A>T | |
| ENST00000585685.5:c.*999-47A>T (APOC4-APOC2) | ENSP00000467185.1:n.*999-47A>T | |
| ENST00000585786.1:c.*248A>T (APOC2) | ENSP00000465001.1:n.*248A>T | |
| ENST00000589057.5:c.447-47A>T (APOC4-APOC2) | ENSP00000468139.1:n.447-47A>T | |
| ENST00000590360.2:c.216-47A>T (APOC2) | ENSP00000466775.1:n.216-47A>T | |
| ENST00000591597.5:c.174-47A>T (APOC2) | ENSP00000476835.1:n.174-47A>T | |
| ENST00000592257.5:c.*10-47A>T (APOC2) | ENSP00000477261.1:n.*10-47A>T | |
| NM_000483.4:c.216-47A>T (APOC2) | NP_000474.2:n.216-47A>T | |
| NR_037932.1:n.1423-47A>T (APOC4-APOC2) | ||
| NM_000483.5:c.216-47A>T (APOC2) MANE Select | NP_000474.2:n.216-47A>T |