Linked Data
ClinVar Variation Id:
280159
dbSNP Id:
rs751214954
ExAC:
19:45452096 CCG / C
gnomAD v2:
19-45452096-CCG-C
gnomAD v3:
19-44948839-CCG-C
gnomAD v4:
19-44948839-CCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948841_44948842del , CM000681.2:g.44948841_44948842del | GRCh38 |
| NC_000019.9:g.45452098_45452099del , CM000681.1:g.45452098_45452099del | GRCh37 |
| NC_000019.8:g.50143938_50143939del | NCBI36 |
| NG_008837.1:g.7856_7857del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.196_197del (APOC2) MANE Select | ENSP00000252490.5:p.Ala66CysfsTer3 | |
| ENST00000252490.5:c.196_197del (APOC4-APOC2) | ENSP00000252490.4:p.Ala66CysfsTer3 | |
| ENST00000585685.5:c.*979_*980del (APOC4-APOC2) | ENSP00000467185.1:n.*979_*980del | |
| ENST00000585786.1:c.196_197del (APOC2) | ENSP00000465001.1:p.Ala66CysfsTer3 | |
| ENST00000589057.5:c.427_428del (APOC4-APOC2) | ENSP00000468139.1:p.Ala143CysfsTer3 | |
| ENST00000590360.2:c.196_197del (APOC2) | ENSP00000466775.1:p.Ala66CysfsTer3 | |
| ENST00000591597.5:c.173+23_173+24del (APOC2) | ENSP00000476835.1:n.173+23_173+24del | |
| ENST00000592257.5:c.134_135del (APOC2) | ENSP00000477261.1:p.Arg45LeufsTer2 | |
| NM_000483.4:c.196_197del (APOC2) | NP_000474.2:p.Ala66CysfsTer3 | |
| NR_037932.1:n.1403_1404del (APOC4-APOC2) | ||
| NM_000483.5:c.196_197del (APOC2) MANE Select | NP_000474.2:p.Ala66CysfsTer3 |