Linked Data
ClinVar Variation Id:
1779944
ClinVar RCV Id:
RCV002407680
dbSNP Id:
rs120074111
gnomAD v2:
19-45452079-C-T
gnomAD v3:
19-44948822-C-T
gnomAD v4:
19-44948822-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948822C>T , CM000681.2:g.44948822C>T | GRCh38 |
| NC_000019.9:g.45452079C>T , CM000681.1:g.45452079C>T | GRCh37 |
| NC_000019.8:g.50143919C>T | NCBI36 |
| NG_008837.1:g.7837C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.177C>T (APOC2) MANE Select | ENSP00000252490.5:p.Tyr59= | |
| ENST00000252490.5:c.177C>T (APOC4-APOC2) | ENSP00000252490.4:p.Tyr59= | |
| ENST00000585685.5:c.*960C>T (APOC4-APOC2) | ENSP00000467185.1:n.*960C>T | |
| ENST00000585786.1:c.177C>T (APOC2) | ENSP00000465001.1:p.Tyr59= | |
| ENST00000589057.5:c.408C>T (APOC4-APOC2) | ENSP00000468139.1:p.Tyr136= | |
| ENST00000590360.2:c.177C>T (APOC2) | ENSP00000466775.1:p.Tyr59= | |
| ENST00000591597.5:c.173+4C>T (APOC2) | ENSP00000476835.1:n.173+4C>T | |
| ENST00000592257.5:c.115C>T (APOC2) | ENSP00000477261.1:p.Arg39Ter | |
| NM_000483.4:c.177C>T (APOC2) | NP_000474.2:p.Tyr59= | |
| NR_037932.1:n.1384C>T (APOC4-APOC2) | ||
| NM_000483.5:c.177C>T (APOC2) MANE Select | NP_000474.2:p.Tyr59= |