This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67990904C>T , CM000678.2:g.67990904C>T | GRCh38 |
| NC_000016.9:g.68024807C>T , CM000678.1:g.68024807C>T | GRCh37 |
| NC_000016.8:g.66582308C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393847.6:c.826G>A (DPEP2) MANE Select | ENSP00000377430.1:p.Ala276Thr | |
| ENST00000393847.5:c.826G>A (DPEP2) | ENSP00000377430.1:p.Ala276Thr | |
| ENST00000570709.6:c.-19+2951C>T (DUS2) | ENSP00000461244.3:n.-19+2951C>T | |
| ENST00000571081.6:c.-99+2951C>T (DUS2) | ENSP00000458906.3:n.-99+2951C>T | |
| ENST00000572888.5:c.826G>A (DPEP2) | ENSP00000458977.1:p.Ala276Thr | |
| ENST00000573808.1:c.478G>A (DPEP2) | ENSP00000463604.1:p.Ala160Thr | |
| ENST00000575203.5:c.768G>A (DPEP2) | ENSP00000459375.1:p.Arg256= | |
| ENST00000575510.5:c.202G>A (DPEP2) | ENSP00000462652.1:p.Ala68Thr | |
| NM_022355.3:c.826G>A (DPEP2) | NP_071750.1:p.Ala276Thr | |
| XM_005256090.3:c.826G>A (DPEP2) | XP_005256147.2:p.Ala276Thr | |
| XM_011523262.1:c.826G>A (DPEP2) | XP_011521564.1:p.Ala276Thr | |
| XM_011523263.1:c.826G>A (DPEP2) | XP_011521565.1:p.Ala276Thr | |
| XM_011523264.1:c.826G>A (DPEP2) | XP_011521566.1:p.Ala276Thr | |
| XM_011523265.1:c.826G>A (DPEP2) | XP_011521567.1:p.Ala276Thr | |
| XM_011523266.1:c.826G>A (DPEP2) | XP_011521568.1:p.Ala276Thr | |
| XM_011523267.1:c.826G>A (DPEP2) | XP_011521569.1:p.Ala276Thr | |
| XM_011523268.1:c.826G>A (DPEP2) | XP_011521570.1:p.Ala276Thr | |
| XM_011523269.1:c.478G>A (DPEP2) | XP_011521571.1:p.Ala160Thr | |
| XM_011523270.1:c.457G>A (DPEP2) | XP_011521572.1:p.Ala153Thr | |
| XM_011523271.1:c.826G>A (DPEP2) | XP_011521573.1:p.Ala276Thr | |
| XM_011523272.1:c.352G>A (DPEP2) | XP_011521574.1:p.Ala118Thr | |
| XM_011523273.1:c.352G>A (DPEP2) | XP_011521575.1:p.Ala118Thr | |
| XM_011523274.1:c.202G>A (DPEP2) | XP_011521576.1:p.Ala68Thr | |
| XR_243420.3:n.1908G>A (DPEP2) | ||
| XR_933389.1:n.1966G>A (DPEP2) | ||
| XR_933390.1:n.1966G>A (DPEP2) | ||
| XR_933391.1:n.1966G>A (DPEP2) | ||
| XR_933392.1:n.1908G>A (DPEP2) | ||
| NM_001324159.1:c.352G>A (DPEP2) | NP_001311088.1:p.Ala118Thr | |
| NR_136706.1:n.1434G>A (DPEP2) | ||
| XM_005256090.5:c.826G>A (DPEP2) | XP_005256147.2:p.Ala276Thr | |
| XM_011523268.3:c.826G>A (DPEP2) | XP_011521570.1:p.Ala276Thr | |
| XM_011523271.3:c.826G>A (DPEP2) | XP_011521573.1:p.Ala276Thr | |
| XM_011523272.3:c.352G>A (DPEP2) | XP_011521574.1:p.Ala118Thr | |
| XM_011523273.3:c.352G>A (DPEP2) | XP_011521575.1:p.Ala118Thr | |
| XM_011523274.3:c.202G>A (DPEP2) | XP_011521576.1:p.Ala68Thr | |
| XM_017023542.2:c.556G>A (DPEP2) | XP_016879031.1:p.Ala186Thr | |
| XM_017023543.1:c.478G>A (DPEP2) | XP_016879032.1:p.Ala160Thr | |
| XM_017023544.1:c.457G>A (DPEP2) | XP_016879033.1:p.Ala153Thr | |
| XM_017023545.1:c.352G>A (DPEP2) | XP_016879034.1:p.Ala118Thr | |
| XM_017023547.1:c.79G>A (DPEP2) | XP_016879036.1:p.Ala27Thr | |
| XM_024450372.1:c.826G>A (DPEP2) | XP_024306140.1:p.Ala276Thr | |
| XM_024450373.1:c.826G>A (DPEP2) | XP_024306141.1:p.Ala276Thr | |
| XM_024450374.1:c.826G>A (DPEP2) | XP_024306142.1:p.Ala276Thr | |
| XM_024450376.1:c.202G>A (DPEP2) | XP_024306144.1:p.Ala68Thr | |
| XR_243420.5:n.950G>A (DPEP2) | ||
| XR_933389.3:n.1008G>A (DPEP2) | ||
| XR_933390.3:n.1008G>A (DPEP2) | ||
| XR_933391.3:n.1008G>A (DPEP2) | ||
| XR_933392.3:n.950G>A (DPEP2) | ||
| NM_022355.4:c.826G>A (DPEP2) MANE Select | NP_071750.1:p.Ala276Thr | |
| NM_001369657.1:c.826G>A (DPEP2) | NP_001356586.1:p.Ala276Thr | |
| NR_136706.2:n.1467G>A (DPEP2) | ||
| NM_001324159.2:c.352G>A (DPEP2) | NP_001311088.1:p.Ala118Thr |