Linked Data
ClinVar Variation Id:
2447633
ClinVar RCV Id:
RCV003165341
dbSNP Id:
rs199687805
ExAC:
19:45452457 C / G
gnomAD v2:
19-45452457-C-G
gnomAD v3:
19-44949200-C-G
gnomAD v4:
19-44949200-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949200C>G , CM000681.2:g.44949200C>G | GRCh38 |
| NC_000019.9:g.45452457C>G , CM000681.1:g.45452457C>G | GRCh37 |
| NC_000019.8:g.50144297C>G | NCBI36 |
| NG_008837.1:g.8215C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.257C>G (APOC2) MANE Select | ENSP00000252490.5:p.Thr86Arg | |
| ENST00000252490.5:c.257C>G (APOC4-APOC2) | ENSP00000252490.4:p.Thr86Arg | |
| ENST00000585685.5:c.*1040C>G (APOC4-APOC2) | ENSP00000467185.1:n.*1040C>G | |
| ENST00000585786.1:c.*336C>G (APOC2) | ENSP00000465001.1:n.*336C>G | |
| ENST00000589057.5:c.488C>G (APOC4-APOC2) | ENSP00000468139.1:p.Thr163Arg | |
| ENST00000590360.2:c.257C>G (APOC2) | ENSP00000466775.1:p.Thr86Arg | |
| ENST00000591597.5:c.215C>G (APOC2) | ENSP00000476835.1:p.Thr72Arg | |
| ENST00000592257.5:c.*51C>G (APOC2) | ENSP00000477261.1:n.*51C>G | |
| NM_000483.4:c.257C>G (APOC2) | NP_000474.2:p.Thr86Arg | |
| NR_037932.1:n.1464C>G (APOC4-APOC2) | ||
| NM_000483.5:c.257C>G (APOC2) MANE Select | NP_000474.2:p.Thr86Arg |