Linked Data
ClinVar Variation Id:
2329907
ClinVar RCV Id:
RCV004174556
dbSNP Id:
rs1170229002
gnomAD v2:
16-68024830-C-T
gnomAD v3:
16-67990927-C-T
gnomAD v4:
16-67990927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67990927C>T , CM000678.2:g.67990927C>T | GRCh38 |
| NC_000016.9:g.68024830C>T , CM000678.1:g.68024830C>T | GRCh37 |
| NC_000016.8:g.66582331C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393847.6:c.803G>A (DPEP2) MANE Select | ENSP00000377430.1:p.Arg268Gln | |
| ENST00000393847.5:c.803G>A (DPEP2) | ENSP00000377430.1:p.Arg268Gln | |
| ENST00000570709.6:c.-19+2974C>T (DUS2) | ENSP00000461244.3:n.-19+2974C>T | |
| ENST00000571081.6:c.-99+2974C>T (DUS2) | ENSP00000458906.3:n.-99+2974C>T | |
| ENST00000572888.5:c.803G>A (DPEP2) | ENSP00000458977.1:p.Arg268Gln | |
| ENST00000573808.1:c.455G>A (DPEP2) | ENSP00000463604.1:p.Arg152Gln | |
| ENST00000575203.5:c.745G>A (DPEP2) | ENSP00000459375.1:p.Gly249Ser | |
| ENST00000575510.5:c.179G>A (DPEP2) | ENSP00000462652.1:p.Arg60Gln | |
| NM_022355.3:c.803G>A (DPEP2) | NP_071750.1:p.Arg268Gln | |
| XM_005256090.3:c.803G>A (DPEP2) | XP_005256147.2:p.Arg268Gln | |
| XM_011523262.1:c.803G>A (DPEP2) | XP_011521564.1:p.Arg268Gln | |
| XM_011523263.1:c.803G>A (DPEP2) | XP_011521565.1:p.Arg268Gln | |
| XM_011523264.1:c.803G>A (DPEP2) | XP_011521566.1:p.Arg268Gln | |
| XM_011523265.1:c.803G>A (DPEP2) | XP_011521567.1:p.Arg268Gln | |
| XM_011523266.1:c.803G>A (DPEP2) | XP_011521568.1:p.Arg268Gln | |
| XM_011523267.1:c.803G>A (DPEP2) | XP_011521569.1:p.Arg268Gln | |
| XM_011523268.1:c.803G>A (DPEP2) | XP_011521570.1:p.Arg268Gln | |
| XM_011523269.1:c.455G>A (DPEP2) | XP_011521571.1:p.Arg152Gln | |
| XM_011523270.1:c.434G>A (DPEP2) | XP_011521572.1:p.Arg145Gln | |
| XM_011523271.1:c.803G>A (DPEP2) | XP_011521573.1:p.Arg268Gln | |
| XM_011523272.1:c.329G>A (DPEP2) | XP_011521574.1:p.Arg110Gln | |
| XM_011523273.1:c.329G>A (DPEP2) | XP_011521575.1:p.Arg110Gln | |
| XM_011523274.1:c.179G>A (DPEP2) | XP_011521576.1:p.Arg60Gln | |
| XR_243420.3:n.1885G>A (DPEP2) | ||
| XR_933389.1:n.1943G>A (DPEP2) | ||
| XR_933390.1:n.1943G>A (DPEP2) | ||
| XR_933391.1:n.1943G>A (DPEP2) | ||
| XR_933392.1:n.1885G>A (DPEP2) | ||
| NM_001324159.1:c.329G>A (DPEP2) | NP_001311088.1:p.Arg110Gln | |
| NR_136706.1:n.1411G>A (DPEP2) | ||
| XM_005256090.5:c.803G>A (DPEP2) | XP_005256147.2:p.Arg268Gln | |
| XM_011523268.3:c.803G>A (DPEP2) | XP_011521570.1:p.Arg268Gln | |
| XM_011523271.3:c.803G>A (DPEP2) | XP_011521573.1:p.Arg268Gln | |
| XM_011523272.3:c.329G>A (DPEP2) | XP_011521574.1:p.Arg110Gln | |
| XM_011523273.3:c.329G>A (DPEP2) | XP_011521575.1:p.Arg110Gln | |
| XM_011523274.3:c.179G>A (DPEP2) | XP_011521576.1:p.Arg60Gln | |
| XM_017023542.2:c.533G>A (DPEP2) | XP_016879031.1:p.Arg178Gln | |
| XM_017023543.1:c.455G>A (DPEP2) | XP_016879032.1:p.Arg152Gln | |
| XM_017023544.1:c.434G>A (DPEP2) | XP_016879033.1:p.Arg145Gln | |
| XM_017023545.1:c.329G>A (DPEP2) | XP_016879034.1:p.Arg110Gln | |
| XM_017023547.1:c.56G>A (DPEP2) | XP_016879036.1:p.Arg19Gln | |
| XM_024450372.1:c.803G>A (DPEP2) | XP_024306140.1:p.Arg268Gln | |
| XM_024450373.1:c.803G>A (DPEP2) | XP_024306141.1:p.Arg268Gln | |
| XM_024450374.1:c.803G>A (DPEP2) | XP_024306142.1:p.Arg268Gln | |
| XM_024450376.1:c.179G>A (DPEP2) | XP_024306144.1:p.Arg60Gln | |
| XR_243420.5:n.927G>A (DPEP2) | ||
| XR_933389.3:n.985G>A (DPEP2) | ||
| XR_933390.3:n.985G>A (DPEP2) | ||
| XR_933391.3:n.985G>A (DPEP2) | ||
| XR_933392.3:n.927G>A (DPEP2) | ||
| NM_022355.4:c.803G>A (DPEP2) MANE Select | NP_071750.1:p.Arg268Gln | |
| NM_001369657.1:c.803G>A (DPEP2) | NP_001356586.1:p.Arg268Gln | |
| NR_136706.2:n.1444G>A (DPEP2) | ||
| NM_001324159.2:c.329G>A (DPEP2) | NP_001311088.1:p.Arg110Gln |