Linked Data
dbSNP Id:
rs1970356065
gnomAD v2:
19-45452334-GT-G
gnomAD v3:
19-44949077-GT-G
gnomAD v4:
19-44949077-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949078del , CM000681.2:g.44949078del | GRCh38 |
| NC_000019.9:g.45452335del , CM000681.1:g.45452335del | GRCh37 |
| NC_000019.8:g.50144175del | NCBI36 |
| NG_008837.1:g.8093del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.216-81del (APOC2) MANE Select | ENSP00000252490.5:n.216-81del | |
| ENST00000252490.5:c.216-81del (APOC4-APOC2) | ENSP00000252490.4:n.216-81del | |
| ENST00000585685.5:c.*999-81del (APOC4-APOC2) | ENSP00000467185.1:n.*999-81del | |
| ENST00000585786.1:c.*214del (APOC2) | ENSP00000465001.1:n.*214del | |
| ENST00000589057.5:c.447-81del (APOC4-APOC2) | ENSP00000468139.1:n.447-81del | |
| ENST00000590360.2:c.216-81del (APOC2) | ENSP00000466775.1:n.216-81del | |
| ENST00000591597.5:c.174-81del (APOC2) | ENSP00000476835.1:n.174-81del | |
| ENST00000592257.5:c.*10-81del (APOC2) | ENSP00000477261.1:n.*10-81del | |
| NM_000483.4:c.216-81del (APOC2) | NP_000474.2:n.216-81del | |
| NR_037932.1:n.1423-81del (APOC4-APOC2) | ||
| NM_000483.5:c.216-81del (APOC2) MANE Select | NP_000474.2:n.216-81del |