Revel Score:
ENST00000252490 (MANE Select)
0.614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949178A>C , CM000681.2:g.44949178A>C | GRCh38 |
| NC_000019.9:g.45452435A>C , CM000681.1:g.45452435A>C | GRCh37 |
| NC_000019.8:g.50144275A>C | NCBI36 |
| NG_008837.1:g.8193A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.235A>C (APOC2) MANE Select | ENSP00000252490.5:p.Thr79Pro | |
| ENST00000252490.5:c.235A>C (APOC4-APOC2) | ENSP00000252490.4:p.Thr79Pro | |
| ENST00000585685.5:c.*1018A>C (APOC4-APOC2) | ENSP00000467185.1:n.*1018A>C | |
| ENST00000585786.1:c.*314A>C (APOC2) | ENSP00000465001.1:n.*314A>C | |
| ENST00000589057.5:c.466A>C (APOC4-APOC2) | ENSP00000468139.1:p.Thr156Pro | |
| ENST00000590360.2:c.235A>C (APOC2) | ENSP00000466775.1:p.Thr79Pro | |
| ENST00000591597.5:c.193A>C (APOC2) | ENSP00000476835.1:p.Thr65Pro | |
| ENST00000592257.5:c.*29A>C (APOC2) | ENSP00000477261.1:n.*29A>C | |
| NM_000483.4:c.235A>C (APOC2) | NP_000474.2:p.Thr79Pro | |
| NR_037932.1:n.1442A>C (APOC4-APOC2) | ||
| NM_000483.5:c.235A>C (APOC2) MANE Select | NP_000474.2:p.Thr79Pro |