Revel Score:
ENST00000252490 (MANE Select)
0.337
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02527345 (AFR)
Genomes Max Group AF
0.02410201 (AFR)
Exomes Max Group AF
0.02584101 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949172A>C , CM000681.2:g.44949172A>C | GRCh38 |
| NC_000019.9:g.45452429A>C , CM000681.1:g.45452429A>C | GRCh37 |
| NC_000019.8:g.50144269A>C | NCBI36 |
| NG_008837.1:g.8187A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.229A>C (APOC2) MANE Select | ENSP00000252490.5:p.Lys77Gln | |
| ENST00000252490.5:c.229A>C (APOC4-APOC2) | ENSP00000252490.4:p.Lys77Gln | |
| ENST00000585685.5:c.*1012A>C (APOC4-APOC2) | ENSP00000467185.1:n.*1012A>C | |
| ENST00000585786.1:c.*308A>C (APOC2) | ENSP00000465001.1:n.*308A>C | |
| ENST00000589057.5:c.460A>C (APOC4-APOC2) | ENSP00000468139.1:p.Lys154Gln | |
| ENST00000590360.2:c.229A>C (APOC2) | ENSP00000466775.1:p.Lys77Gln | |
| ENST00000591597.5:c.187A>C (APOC2) | ENSP00000476835.1:p.Lys63Gln | |
| ENST00000592257.5:c.*23A>C (APOC2) | ENSP00000477261.1:n.*23A>C | |
| NM_000483.4:c.229A>C (APOC2) | NP_000474.2:p.Lys77Gln | |
| NR_037932.1:n.1436A>C (APOC4-APOC2) | ||
| NM_000483.5:c.229A>C (APOC2) MANE Select | NP_000474.2:p.Lys77Gln |