Linked Data
ClinVar Variation Id:
873127
dbSNP Id:
rs1311857509
gnomAD v2:
9-35808513-C-T
gnomAD v3:
9-35808516-C-T
gnomAD v4:
9-35808516-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35808516C>T , CM000671.2:g.35808516C>T | GRCh38 |
| NC_000009.11:g.35808513C>T , CM000671.1:g.35808513C>T | GRCh37 |
| NC_000009.10:g.35798513C>T | NCBI36 |
| NG_009249.1:g.21108C>T | |
| NG_047141.1:g.8757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.760C>T (NPR2) | ||
| ENST00000448821.6:c.2713-239C>T (NPR2) | ENSP00000402902.2:n.2713-239C>T | |
| ENST00000685871.1:c.2648C>T (NPR2) | ENSP00000509964.1:p.Thr883Met | |
| ENST00000686159.1:n.2759C>T (NPR2) | ||
| ENST00000686486.1:n.1890C>T (NPR2) | ||
| ENST00000687302.1:n.2834C>T (NPR2) | ||
| ENST00000687357.1:c.2573C>T (NPR2) | ENSP00000509549.1:p.Thr858Met | |
| ENST00000687625.1:n.1875C>T (NPR2) | ||
| ENST00000687787.1:c.2879C>T (NPR2) | ENSP00000509440.1:p.Thr960Met | |
| ENST00000688201.1:n.2677C>T (NPR2) | ||
| ENST00000688226.1:n.2652C>T (NPR2) | ||
| ENST00000688869.1:n.3026C>T (NPR2) | ||
| ENST00000689788.1:c.2514C>T (NPR2) | ENSP00000508973.1:n.2514C>T | |
| ENST00000689898.1:c.2577C>T (NPR2) | ENSP00000509651.1:n.2577C>T | |
| ENST00000690070.1:c.2804C>T (NPR2) | ENSP00000509654.1:p.Thr935Met | |
| ENST00000690267.1:c.2509C>T (NPR2) | ENSP00000510432.1:n.2509C>T | |
| ENST00000690552.1:n.3065C>T (NPR2) | ||
| ENST00000691138.1:n.2993C>T (NPR2) | ||
| ENST00000691969.1:c.2220C>T (NPR2) | ENSP00000510244.1:n.2220C>T | |
| ENST00000692232.1:n.4035C>T (NPR2) | ||
| ENST00000692233.1:c.2584C>T (NPR2) | ENSP00000509698.1:n.2584C>T | |
| ENST00000692380.1:n.1875C>T (NPR2) | ||
| ENST00000692447.1:n.3836C>T (NPR2) | ||
| ENST00000693094.1:c.2810C>T (NPR2) | ENSP00000510161.1:p.Thr937Met | |
| ENST00000342694.7:c.2720C>T (NPR2) MANE Select | ENSP00000341083.2:p.Thr907Met | |
| ENST00000340291.6:c.1373-210G>A (SPAG8) | ENSP00000340982.2:n.1373-210G>A | |
| ENST00000342694.6:c.2720C>T (NPR2) | ENSP00000341083.2:p.Thr907Met | |
| ENST00000421267.5:c.760C>T (NPR2) | ||
| ENST00000447210.5:c.482+1125C>T (NPR2) | ENSP00000393029.1:n.482+1125C>T | |
| ENST00000448821.5:c.200-239C>T (NPR2) | ||
| ENST00000460836.5:n.417-210G>A (SPAG8) | ||
| ENST00000463889.5:n.467-210G>A (SPAG8) | ||
| ENST00000464810.5:n.2720C>T (NPR2) | ||
| ENST00000469249.1:n.116C>T (NPR2) | ||
| ENST00000475644.5:c.*826-210G>A (SPAG8) | ENSP00000418530.1:n.*826-210G>A | |
| ENST00000489063.1:n.475-210G>A (SPAG8) | ||
| NM_003995.3:c.2720C>T (NPR2) | NP_003986.2:p.Thr907Met | |
| NM_172312.1:c.1373-210G>A (SPAG8) | NP_758516.1:n.1373-210G>A | |
| XM_005251438.1:c.1201-210G>A (SPAG8) | XP_005251495.1:n.1201-210G>A | |
| XM_005251478.3:c.2729C>T (NPR2) | XP_005251535.1:p.Thr910Met | |
| XM_005251479.3:c.1742C>T (NPR2) | XP_005251536.1:p.Thr581Met | |
| XM_006716778.2:c.2657C>T (NPR2) | XP_006716841.1:p.Thr886Met | |
| XM_011517889.1:c.1742C>T (NPR2) | XP_011516191.1:p.Thr581Met | |
| XM_011517890.1:c.1742C>T (NPR2) | XP_011516192.1:p.Thr581Met | |
| XM_011517891.1:c.1742C>T (NPR2) | XP_011516193.1:p.Thr581Met | |
| XM_011517892.1:c.1742C>T (NPR2) | XP_011516194.1:p.Thr581Met | |
| XM_011517893.1:c.1742C>T (NPR2) | XP_011516195.1:p.Thr581Met | |
| XM_011517894.1:c.1742C>T (NPR2) | XP_011516196.1:p.Thr581Met | |
| XM_011517895.1:c.1325C>T (NPR2) | XP_011516197.1:p.Thr442Met | |
| XM_024447512.1:c.1210-210G>A (SPAG8) | XP_024303280.1:n.1210-210G>A | |
| XM_024447513.1:c.1201-210G>A (SPAG8) | XP_024303281.1:n.1201-210G>A | |
| XM_024447556.1:c.2888C>T (NPR2) | XP_024303324.1:p.Thr963Met | |
| XM_024447557.1:c.2879C>T (NPR2) | XP_024303325.1:p.Thr960Met | |
| XM_024447558.1:c.1901C>T (NPR2) | XP_024303326.1:p.Thr634Met | |
| XM_024447559.1:c.1484C>T (NPR2) | XP_024303327.1:p.Thr495Met | |
| XM_024447560.1:c.1475C>T (NPR2) | XP_024303328.1:p.Thr492Met | |
| XM_024447561.1:c.1316C>T (NPR2) | XP_024303329.1:p.Thr439Met | |
| XR_002956772.1:n.1313-210G>A (SPAG8) | ||
| NM_001366760.2:c.1201-210G>A (SPAG8) | NP_001353689.1:n.1201-210G>A | |
| NM_003995.4:c.2720C>T (NPR2) MANE Select | NP_003986.2:p.Thr907Met | |
| NM_172312.2:c.1373-210G>A (SPAG8) | NP_758516.1:n.1373-210G>A | |
| NR_159431.2:n.1303-210G>A (SPAG8) | ||
| NM_001378923.1:c.2729C>T (NPR2) | NP_001365852.1:p.Thr910Met |