Linked Data
ClinVar Variation Id:
1747123
ClinVar RCV Id:
RCV002347083
dbSNP Id:
rs750459826
ExAC:
19:45451746 G / A
gnomAD v2:
19-45451746-G-A
gnomAD v3:
19-44948489-G-A
gnomAD v4:
19-44948489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948489G>A , CM000681.2:g.44948489G>A | GRCh38 |
| NC_000019.9:g.45451746G>A , CM000681.1:g.45451746G>A | GRCh37 |
| NC_000019.8:g.50143586G>A | NCBI36 |
| NG_008837.1:g.7504G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.11G>A (APOC2) MANE Select | ENSP00000252490.5:p.Arg4Gln | |
| ENST00000252490.5:c.11G>A (APOC4-APOC2) | ENSP00000252490.4:p.Arg4Gln | |
| ENST00000585685.5:c.*794G>A (APOC4-APOC2) | ENSP00000467185.1:n.*794G>A | |
| ENST00000585786.1:c.11G>A (APOC2) | ENSP00000465001.1:p.Arg4Gln | |
| ENST00000589057.5:c.242G>A (APOC4-APOC2) | ENSP00000468139.1:p.Arg81Gln | |
| ENST00000590360.2:c.11G>A (APOC2) | ENSP00000466775.1:p.Arg4Gln | |
| ENST00000591597.5:c.11G>A (APOC2) | ENSP00000476835.1:p.Arg4Gln | |
| ENST00000592257.5:c.11G>A (APOC2) | ENSP00000477261.1:p.Arg4Gln | |
| NM_000483.4:c.11G>A (APOC2) | NP_000474.2:p.Arg4Gln | |
| NR_037932.1:n.1218G>A (APOC4-APOC2) | ||
| NM_000483.5:c.11G>A (APOC2) MANE Select | NP_000474.2:p.Arg4Gln |