This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44949192C>T , CM000681.2:g.44949192C>T | GRCh38 |
| NC_000019.9:g.45452449C>T , CM000681.1:g.45452449C>T | GRCh37 |
| NC_000019.8:g.50144289C>T | NCBI36 |
| NG_008837.1:g.8207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.249C>T (APOC2) MANE Select | ENSP00000252490.5:p.Ser83= | |
| ENST00000252490.5:c.249C>T (APOC4-APOC2) | ENSP00000252490.4:p.Ser83= | |
| ENST00000585685.5:c.*1032C>T (APOC4-APOC2) | ENSP00000467185.1:n.*1032C>T | |
| ENST00000585786.1:c.*328C>T (APOC2) | ENSP00000465001.1:n.*328C>T | |
| ENST00000589057.5:c.480C>T (APOC4-APOC2) | ENSP00000468139.1:p.Ser160= | |
| ENST00000590360.2:c.249C>T (APOC2) | ENSP00000466775.1:p.Ser83= | |
| ENST00000591597.5:c.207C>T (APOC2) | ENSP00000476835.1:p.Ser69= | |
| ENST00000592257.5:c.*43C>T (APOC2) | ENSP00000477261.1:n.*43C>T | |
| NM_000483.4:c.249C>T (APOC2) | NP_000474.2:p.Ser83= | |
| NR_037932.1:n.1456C>T (APOC4-APOC2) | ||
| NM_000483.5:c.249C>T (APOC2) MANE Select | NP_000474.2:p.Ser83= |