Linked Data
ClinVar Variation Id:
329455
ClinVar RCV Id:
RCV000271567
dbSNP Id:
rs886054485
gnomAD v2:
19-45452501-G-A
gnomAD v4:
19-44949244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949244G>A , CM000681.2:g.44949244G>A | GRCh38 |
| NC_000019.9:g.45452501G>A , CM000681.1:g.45452501G>A | GRCh37 |
| NC_000019.8:g.50144341G>A | NCBI36 |
| NG_008837.1:g.8259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.301G>A (APOC2) MANE Select | ENSP00000252490.5:p.Glu101Lys | |
| ENST00000252490.5:c.301G>A (APOC4-APOC2) | ENSP00000252490.4:p.Glu101Lys | |
| ENST00000585685.5:c.*1084G>A (APOC4-APOC2) | ENSP00000467185.1:n.*1084G>A | |
| ENST00000585786.1:c.*380G>A (APOC2) | ENSP00000465001.1:n.*380G>A | |
| ENST00000589057.5:c.532G>A (APOC4-APOC2) | ENSP00000468139.1:p.Glu178Lys | |
| ENST00000590360.2:c.301G>A (APOC2) | ENSP00000466775.1:p.Glu101Lys | |
| ENST00000591597.5:c.259G>A (APOC2) | ENSP00000476835.1:p.Glu87Lys | |
| ENST00000592257.5:c.*95G>A (APOC2) | ENSP00000477261.1:n.*95G>A | |
| NM_000483.4:c.301G>A (APOC2) | NP_000474.2:p.Glu101Lys | |
| NR_037932.1:n.1508G>A (APOC4-APOC2) | ||
| NM_000483.5:c.301G>A (APOC2) MANE Select | NP_000474.2:p.Glu101Lys |