Revel Score:
ENST00000252490 (MANE Select)
0.544
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948847G>C , CM000681.2:g.44948847G>C | GRCh38 |
| NC_000019.9:g.45452104G>C , CM000681.1:g.45452104G>C | GRCh37 |
| NC_000019.8:g.50143944G>C | NCBI36 |
| NG_008837.1:g.7862G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.202G>C (APOC2) MANE Select | ENSP00000252490.5:p.Asp68His | |
| ENST00000252490.5:c.202G>C (APOC4-APOC2) | ENSP00000252490.4:p.Asp68His | |
| ENST00000585685.5:c.*985G>C (APOC4-APOC2) | ENSP00000467185.1:n.*985G>C | |
| ENST00000585786.1:c.202G>C (APOC2) | ENSP00000465001.1:p.Asp68His | |
| ENST00000589057.5:c.433G>C (APOC4-APOC2) | ENSP00000468139.1:p.Asp145His | |
| ENST00000590360.2:c.202G>C (APOC2) | ENSP00000466775.1:p.Asp68His | |
| ENST00000591597.5:c.173+29G>C (APOC2) | ENSP00000476835.1:n.173+29G>C | |
| ENST00000592257.5:c.140G>C (APOC2) | ENSP00000477261.1:p.Arg47Thr | |
| NM_000483.4:c.202G>C (APOC2) | NP_000474.2:p.Asp68His | |
| NR_037932.1:n.1409G>C (APOC4-APOC2) | ||
| NM_000483.5:c.202G>C (APOC2) MANE Select | NP_000474.2:p.Asp68His |