Linked Data
ClinVar Variation Id:
1793910
ClinVar RCV Id:
RCV002426387
dbSNP Id:
rs762824970
ExAC:
19:45452461 C / G
gnomAD v2:
19-45452461-C-G
gnomAD v3:
19-44949204-C-G
gnomAD v4:
19-44949204-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949204C>G , CM000681.2:g.44949204C>G | GRCh38 |
| NC_000019.9:g.45452461C>G , CM000681.1:g.45452461C>G | GRCh37 |
| NC_000019.8:g.50144301C>G | NCBI36 |
| NG_008837.1:g.8219C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.261C>G (APOC2) MANE Select | ENSP00000252490.5:p.Gly87= | |
| ENST00000252490.5:c.261C>G (APOC4-APOC2) | ENSP00000252490.4:p.Gly87= | |
| ENST00000585685.5:c.*1044C>G (APOC4-APOC2) | ENSP00000467185.1:n.*1044C>G | |
| ENST00000585786.1:c.*340C>G (APOC2) | ENSP00000465001.1:n.*340C>G | |
| ENST00000589057.5:c.492C>G (APOC4-APOC2) | ENSP00000468139.1:p.Gly164= | |
| ENST00000590360.2:c.261C>G (APOC2) | ENSP00000466775.1:p.Gly87= | |
| ENST00000591597.5:c.219C>G (APOC2) | ENSP00000476835.1:p.Gly73= | |
| ENST00000592257.5:c.*55C>G (APOC2) | ENSP00000477261.1:n.*55C>G | |
| NM_000483.4:c.261C>G (APOC2) | NP_000474.2:p.Gly87= | |
| NR_037932.1:n.1468C>G (APOC4-APOC2) | ||
| NM_000483.5:c.261C>G (APOC2) MANE Select | NP_000474.2:p.Gly87= |