COSMIC:
COSM4988285 (not active)
Revel Score:
ENST00000252490 (MANE Select)
0.471
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00102048 (NFE)
Genomes Max Group AF
0.00107486 (NFE)
Exomes Max Group AF
0.00100561 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948767A>C , CM000681.2:g.44948767A>C | GRCh38 |
| NC_000019.9:g.45452024A>C , CM000681.1:g.45452024A>C | GRCh37 |
| NC_000019.8:g.50143864A>C | NCBI36 |
| NG_008837.1:g.7782A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.122A>C (APOC2) MANE Select | ENSP00000252490.5:p.Lys41Thr | |
| ENST00000252490.5:c.122A>C (APOC4-APOC2) | ENSP00000252490.4:p.Lys41Thr | |
| ENST00000585685.5:c.*905A>C (APOC4-APOC2) | ENSP00000467185.1:n.*905A>C | |
| ENST00000585786.1:c.122A>C (APOC2) | ENSP00000465001.1:p.Lys41Thr | |
| ENST00000589057.5:c.353A>C (APOC4-APOC2) | ENSP00000468139.1:p.Lys118Thr | |
| ENST00000590360.2:c.122A>C (APOC2) | ENSP00000466775.1:p.Lys41Thr | |
| ENST00000591597.5:c.122A>C (APOC2) | ENSP00000476835.1:p.Lys41Thr | |
| ENST00000592257.5:c.60A>C (APOC2) | ENSP00000477261.1:p.Glu20Asp | |
| NM_000483.4:c.122A>C (APOC2) | NP_000474.2:p.Lys41Thr | |
| NR_037932.1:n.1329A>C (APOC4-APOC2) | ||
| NM_000483.5:c.122A>C (APOC2) MANE Select | NP_000474.2:p.Lys41Thr |