gnomAD v4:
Joint Max Group AF
0.00000318 (NFE)
Exomes Max Group AF
0.00000341 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948997G>A , CM000681.2:g.44948997G>A | GRCh38 |
| NC_000019.9:g.45452254G>A , CM000681.1:g.45452254G>A | GRCh37 |
| NC_000019.8:g.50144094G>A | NCBI36 |
| NG_008837.1:g.8012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.215+137G>A (APOC2) MANE Select | ENSP00000252490.5:n.215+137G>A | |
| ENST00000252490.5:c.215+137G>A (APOC4-APOC2) | ENSP00000252490.4:n.215+137G>A | |
| ENST00000585685.5:c.*998+137G>A (APOC4-APOC2) | ENSP00000467185.1:n.*998+137G>A | |
| ENST00000585786.1:c.*133G>A (APOC2) | ENSP00000465001.1:n.*133G>A | |
| ENST00000589057.5:c.446+137G>A (APOC4-APOC2) | ENSP00000468139.1:n.446+137G>A | |
| ENST00000590360.2:c.215+137G>A (APOC2) | ENSP00000466775.1:n.215+137G>A | |
| ENST00000591597.5:c.174-162G>A (APOC2) | ENSP00000476835.1:n.174-162G>A | |
| ENST00000592257.5:c.*9+137G>A (APOC2) | ENSP00000477261.1:n.*9+137G>A | |
| NM_000483.4:c.215+137G>A (APOC2) | NP_000474.2:n.215+137G>A | |
| NR_037932.1:n.1422+137G>A (APOC4-APOC2) | ||
| NM_000483.5:c.215+137G>A (APOC2) MANE Select | NP_000474.2:n.215+137G>A |