COSMIC:
COSN26728713 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21081787 (AFR)
Genomes Max Group AF
0.21389105 (AFR)
Exomes Max Group AF
0.20446598 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67991092G>A , CM000678.2:g.67991092G>A | GRCh38 |
| NC_000016.9:g.68024995G>A , CM000678.1:g.68024995G>A | GRCh37 |
| NC_000016.8:g.66582496G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393847.6:c.732+23C>T (DPEP2) MANE Select | ENSP00000377430.1:n.732+23C>T | |
| ENST00000393847.5:c.732+23C>T (DPEP2) | ENSP00000377430.1:n.732+23C>T | |
| ENST00000570709.6:c.-19+3139G>A (DUS2) | ENSP00000461244.3:n.-19+3139G>A | |
| ENST00000571081.6:c.-99+3139G>A (DUS2) | ENSP00000458906.3:n.-99+3139G>A | |
| ENST00000572888.5:c.732+23C>T (DPEP2) | ENSP00000458977.1:n.732+23C>T | |
| ENST00000573808.1:c.384+23C>T (DPEP2) | ENSP00000463604.1:n.384+23C>T | |
| ENST00000575203.5:c.732+23C>T (DPEP2) | ENSP00000459375.1:n.732+23C>T | |
| ENST00000575510.5:c.108+23C>T (DPEP2) | ENSP00000462652.1:n.108+23C>T | |
| NM_022355.3:c.732+23C>T (DPEP2) | NP_071750.1:n.732+23C>T | |
| XM_005256090.3:c.732+23C>T (DPEP2) | XP_005256147.2:n.732+23C>T | |
| XM_011523262.1:c.732+23C>T (DPEP2) | XP_011521564.1:n.732+23C>T | |
| XM_011523263.1:c.732+23C>T (DPEP2) | XP_011521565.1:n.732+23C>T | |
| XM_011523264.1:c.732+23C>T (DPEP2) | XP_011521566.1:n.732+23C>T | |
| XM_011523265.1:c.732+23C>T (DPEP2) | XP_011521567.1:n.732+23C>T | |
| XM_011523266.1:c.732+23C>T (DPEP2) | XP_011521568.1:n.732+23C>T | |
| XM_011523267.1:c.732+23C>T (DPEP2) | XP_011521569.1:n.732+23C>T | |
| XM_011523268.1:c.732+23C>T (DPEP2) | XP_011521570.1:n.732+23C>T | |
| XM_011523269.1:c.384+23C>T (DPEP2) | XP_011521571.1:n.384+23C>T | |
| XM_011523270.1:c.363+23C>T (DPEP2) | XP_011521572.1:n.363+23C>T | |
| XM_011523271.1:c.732+23C>T (DPEP2) | XP_011521573.1:n.732+23C>T | |
| XM_011523272.1:c.258+23C>T (DPEP2) | XP_011521574.1:n.258+23C>T | |
| XM_011523273.1:c.258+23C>T (DPEP2) | XP_011521575.1:n.258+23C>T | |
| XM_011523274.1:c.108+23C>T (DPEP2) | XP_011521576.1:n.108+23C>T | |
| XR_243420.3:n.1872+23C>T (DPEP2) | ||
| XR_933389.1:n.1872+23C>T (DPEP2) | ||
| XR_933390.1:n.1872+23C>T (DPEP2) | ||
| XR_933391.1:n.1872+23C>T (DPEP2) | ||
| XR_933392.1:n.1872+23C>T (DPEP2) | ||
| NM_001324159.1:c.258+23C>T (DPEP2) | NP_001311088.1:n.258+23C>T | |
| NR_136706.1:n.1398+23C>T (DPEP2) | ||
| XM_005256090.5:c.732+23C>T (DPEP2) | XP_005256147.2:n.732+23C>T | |
| XM_011523268.3:c.732+23C>T (DPEP2) | XP_011521570.1:n.732+23C>T | |
| XM_011523271.3:c.732+23C>T (DPEP2) | XP_011521573.1:n.732+23C>T | |
| XM_011523272.3:c.258+23C>T (DPEP2) | XP_011521574.1:n.258+23C>T | |
| XM_011523273.3:c.258+23C>T (DPEP2) | XP_011521575.1:n.258+23C>T | |
| XM_011523274.3:c.108+23C>T (DPEP2) | XP_011521576.1:n.108+23C>T | |
| XM_017023542.2:c.521-153C>T (DPEP2) | XP_016879031.1:n.521-153C>T | |
| XM_017023543.1:c.384+23C>T (DPEP2) | XP_016879032.1:n.384+23C>T | |
| XM_017023544.1:c.363+23C>T (DPEP2) | XP_016879033.1:n.363+23C>T | |
| XM_017023545.1:c.258+23C>T (DPEP2) | XP_016879034.1:n.258+23C>T | |
| XM_017023547.1:c.-15-95C>T (DPEP2) | XP_016879036.1:n.-15-95C>T | |
| XM_024450372.1:c.732+23C>T (DPEP2) | XP_024306140.1:n.732+23C>T | |
| XM_024450373.1:c.732+23C>T (DPEP2) | XP_024306141.1:n.732+23C>T | |
| XM_024450374.1:c.732+23C>T (DPEP2) | XP_024306142.1:n.732+23C>T | |
| XM_024450376.1:c.108+23C>T (DPEP2) | XP_024306144.1:n.108+23C>T | |
| XR_243420.5:n.914+23C>T (DPEP2) | ||
| XR_933389.3:n.914+23C>T (DPEP2) | ||
| XR_933390.3:n.914+23C>T (DPEP2) | ||
| XR_933391.3:n.914+23C>T (DPEP2) | ||
| XR_933392.3:n.914+23C>T (DPEP2) | ||
| NM_022355.4:c.732+23C>T (DPEP2) MANE Select | NP_071750.1:n.732+23C>T | |
| NM_001369657.1:c.732+23C>T (DPEP2) | NP_001356586.1:n.732+23C>T | |
| NR_136706.2:n.1431+23C>T (DPEP2) | ||
| NM_001324159.2:c.258+23C>T (DPEP2) | NP_001311088.1:n.258+23C>T |