Revel Score:
ENST00000252490 (MANE Select)
0.127
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949189G>A , CM000681.2:g.44949189G>A | GRCh38 |
| NC_000019.9:g.45452446G>A , CM000681.1:g.45452446G>A | GRCh37 |
| NC_000019.8:g.50144286G>A | NCBI36 |
| NG_008837.1:g.8204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.246G>A (APOC2) MANE Select | ENSP00000252490.5:p.Met82Ile | |
| ENST00000252490.5:c.246G>A (APOC4-APOC2) | ENSP00000252490.4:p.Met82Ile | |
| ENST00000585685.5:c.*1029G>A (APOC4-APOC2) | ENSP00000467185.1:n.*1029G>A | |
| ENST00000585786.1:c.*325G>A (APOC2) | ENSP00000465001.1:n.*325G>A | |
| ENST00000589057.5:c.477G>A (APOC4-APOC2) | ENSP00000468139.1:p.Met159Ile | |
| ENST00000590360.2:c.246G>A (APOC2) | ENSP00000466775.1:p.Met82Ile | |
| ENST00000591597.5:c.204G>A (APOC2) | ENSP00000476835.1:p.Met68Ile | |
| ENST00000592257.5:c.*40G>A (APOC2) | ENSP00000477261.1:n.*40G>A | |
| NM_000483.4:c.246G>A (APOC2) | NP_000474.2:p.Met82Ile | |
| NR_037932.1:n.1453G>A (APOC4-APOC2) | ||
| NM_000483.5:c.246G>A (APOC2) MANE Select | NP_000474.2:p.Met82Ile |