Linked Data
ClinVar Variation Id:
194950
dbSNP Id:
rs369313283
ExAC:
9:35808516 T / C
gnomAD v2:
9-35808516-T-C
gnomAD v3:
9-35808519-T-C
gnomAD v4:
9-35808519-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35808519T>C , CM000671.2:g.35808519T>C | GRCh38 |
| NC_000009.11:g.35808516T>C , CM000671.1:g.35808516T>C | GRCh37 |
| NC_000009.10:g.35798516T>C | NCBI36 |
| NG_009249.1:g.21111T>C | |
| NG_047141.1:g.8754A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.763T>C (NPR2) | ||
| ENST00000448821.6:c.2713-236T>C (NPR2) | ENSP00000402902.2:n.2713-236T>C | |
| ENST00000685871.1:c.2651T>C (NPR2) | ENSP00000509964.1:p.Ile884Thr | |
| ENST00000686159.1:n.2762T>C (NPR2) | ||
| ENST00000686486.1:n.1893T>C (NPR2) | ||
| ENST00000687302.1:n.2837T>C (NPR2) | ||
| ENST00000687357.1:c.2576T>C (NPR2) | ENSP00000509549.1:p.Ile859Thr | |
| ENST00000687625.1:n.1878T>C (NPR2) | ||
| ENST00000687787.1:c.2882T>C (NPR2) | ENSP00000509440.1:p.Ile961Thr | |
| ENST00000688201.1:n.2680T>C (NPR2) | ||
| ENST00000688226.1:n.2655T>C (NPR2) | ||
| ENST00000688869.1:n.3029T>C (NPR2) | ||
| ENST00000689788.1:c.2517T>C (NPR2) | ENSP00000508973.1:n.2517T>C | |
| ENST00000689898.1:c.2580T>C (NPR2) | ENSP00000509651.1:n.2580T>C | |
| ENST00000690070.1:c.2807T>C (NPR2) | ENSP00000509654.1:p.Ile936Thr | |
| ENST00000690267.1:c.2512T>C (NPR2) | ENSP00000510432.1:n.2512T>C | |
| ENST00000690552.1:n.3068T>C (NPR2) | ||
| ENST00000691138.1:n.2996T>C (NPR2) | ||
| ENST00000691969.1:c.2223T>C (NPR2) | ENSP00000510244.1:n.2223T>C | |
| ENST00000692232.1:n.4038T>C (NPR2) | ||
| ENST00000692233.1:c.2587T>C (NPR2) | ENSP00000509698.1:n.2587T>C | |
| ENST00000692380.1:n.1878T>C (NPR2) | ||
| ENST00000692447.1:n.3839T>C (NPR2) | ||
| ENST00000693094.1:c.2813T>C (NPR2) | ENSP00000510161.1:p.Ile938Thr | |
| ENST00000342694.7:c.2723T>C (NPR2) MANE Select | ENSP00000341083.2:p.Ile908Thr | |
| ENST00000340291.6:c.1373-213A>G (SPAG8) | ENSP00000340982.2:n.1373-213A>G | |
| ENST00000342694.6:c.2723T>C (NPR2) | ENSP00000341083.2:p.Ile908Thr | |
| ENST00000421267.5:c.763T>C (NPR2) | ||
| ENST00000447210.5:c.482+1128T>C (NPR2) | ENSP00000393029.1:n.482+1128T>C | |
| ENST00000448821.5:c.200-236T>C (NPR2) | ||
| ENST00000460836.5:n.417-213A>G (SPAG8) | ||
| ENST00000463889.5:n.467-213A>G (SPAG8) | ||
| ENST00000464810.5:n.2723T>C (NPR2) | ||
| ENST00000469249.1:n.119T>C (NPR2) | ||
| ENST00000475644.5:c.*826-213A>G (SPAG8) | ENSP00000418530.1:n.*826-213A>G | |
| ENST00000489063.1:n.475-213A>G (SPAG8) | ||
| NM_003995.3:c.2723T>C (NPR2) | NP_003986.2:p.Ile908Thr | |
| NM_172312.1:c.1373-213A>G (SPAG8) | NP_758516.1:n.1373-213A>G | |
| XM_005251438.1:c.1201-213A>G (SPAG8) | XP_005251495.1:n.1201-213A>G | |
| XM_005251478.3:c.2732T>C (NPR2) | XP_005251535.1:p.Ile911Thr | |
| XM_005251479.3:c.1745T>C (NPR2) | XP_005251536.1:p.Ile582Thr | |
| XM_006716778.2:c.2660T>C (NPR2) | XP_006716841.1:p.Ile887Thr | |
| XM_011517889.1:c.1745T>C (NPR2) | XP_011516191.1:p.Ile582Thr | |
| XM_011517890.1:c.1745T>C (NPR2) | XP_011516192.1:p.Ile582Thr | |
| XM_011517891.1:c.1745T>C (NPR2) | XP_011516193.1:p.Ile582Thr | |
| XM_011517892.1:c.1745T>C (NPR2) | XP_011516194.1:p.Ile582Thr | |
| XM_011517893.1:c.1745T>C (NPR2) | XP_011516195.1:p.Ile582Thr | |
| XM_011517894.1:c.1745T>C (NPR2) | XP_011516196.1:p.Ile582Thr | |
| XM_011517895.1:c.1328T>C (NPR2) | XP_011516197.1:p.Ile443Thr | |
| XM_024447512.1:c.1210-213A>G (SPAG8) | XP_024303280.1:n.1210-213A>G | |
| XM_024447513.1:c.1201-213A>G (SPAG8) | XP_024303281.1:n.1201-213A>G | |
| XM_024447556.1:c.2891T>C (NPR2) | XP_024303324.1:p.Ile964Thr | |
| XM_024447557.1:c.2882T>C (NPR2) | XP_024303325.1:p.Ile961Thr | |
| XM_024447558.1:c.1904T>C (NPR2) | XP_024303326.1:p.Ile635Thr | |
| XM_024447559.1:c.1487T>C (NPR2) | XP_024303327.1:p.Ile496Thr | |
| XM_024447560.1:c.1478T>C (NPR2) | XP_024303328.1:p.Ile493Thr | |
| XM_024447561.1:c.1319T>C (NPR2) | XP_024303329.1:p.Ile440Thr | |
| XR_002956772.1:n.1313-213A>G (SPAG8) | ||
| NM_001366760.2:c.1201-213A>G (SPAG8) | NP_001353689.1:n.1201-213A>G | |
| NM_003995.4:c.2723T>C (NPR2) MANE Select | NP_003986.2:p.Ile908Thr | |
| NM_172312.2:c.1373-213A>G (SPAG8) | NP_758516.1:n.1373-213A>G | |
| NR_159431.2:n.1303-213A>G (SPAG8) | ||
| NM_001378923.1:c.2732T>C (NPR2) | NP_001365852.1:p.Ile911Thr |