Linked Data
ClinVar Variation Id:
418389
dbSNP Id:
rs771373457
gnomAD v2:
9-35808830-G-T
gnomAD v3:
9-35808833-G-T
gnomAD v4:
9-35808833-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35808833G>T , CM000671.2:g.35808833G>T | GRCh38 |
| NC_000009.11:g.35808830G>T , CM000671.1:g.35808830G>T | GRCh37 |
| NC_000009.10:g.35798830G>T | NCBI36 |
| NG_009249.1:g.21425G>T | |
| NG_047141.1:g.8440C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.1006G>T (NPR2) | ||
| ENST00000448821.6:c.2791G>T (NPR2) | ENSP00000402902.2:n.2791G>T | |
| ENST00000685871.1:c.2894G>T (NPR2) | ENSP00000509964.1:p.Arg965Leu | |
| ENST00000686159.1:n.3005G>T (NPR2) | ||
| ENST00000686486.1:n.2207G>T (NPR2) | ||
| ENST00000687302.1:n.3151G>T (NPR2) | ||
| ENST00000687357.1:c.2819G>T (NPR2) | ENSP00000509549.1:p.Arg940Leu | |
| ENST00000687625.1:n.2121G>T (NPR2) | ||
| ENST00000687787.1:c.3125G>T (NPR2) | ENSP00000509440.1:p.Arg1042Leu | |
| ENST00000688201.1:n.2923G>T (NPR2) | ||
| ENST00000688226.1:n.2898G>T (NPR2) | ||
| ENST00000688869.1:n.3272G>T (NPR2) | ||
| ENST00000689788.1:c.2760G>T (NPR2) | ENSP00000508973.1:n.2760G>T | |
| ENST00000689898.1:c.2823G>T (NPR2) | ENSP00000509651.1:n.2823G>T | |
| ENST00000690070.1:c.3050G>T (NPR2) | ENSP00000509654.1:p.Arg1017Leu | |
| ENST00000690267.1:c.2755G>T (NPR2) | ENSP00000510432.1:n.2755G>T | |
| ENST00000690552.1:n.3311G>T (NPR2) | ||
| ENST00000691138.1:n.3310G>T (NPR2) | ||
| ENST00000691969.1:c.2466G>T (NPR2) | ENSP00000510244.1:n.2466G>T | |
| ENST00000692232.1:n.4281G>T (NPR2) | ||
| ENST00000692233.1:c.2830G>T (NPR2) | ENSP00000509698.1:n.2830G>T | |
| ENST00000692380.1:n.2121G>T (NPR2) | ||
| ENST00000692447.1:n.4082G>T (NPR2) | ||
| ENST00000693094.1:c.3056G>T (NPR2) | ENSP00000510161.1:p.Arg1019Leu | |
| ENST00000342694.7:c.2966G>T (NPR2) MANE Select | ENSP00000341083.2:p.Arg989Leu | |
| ENST00000340291.6:c.1373-527C>A (SPAG8) | ENSP00000340982.2:n.1373-527C>A | |
| ENST00000342694.6:c.2966G>T (NPR2) | ENSP00000341083.2:p.Arg989Leu | |
| ENST00000447210.5:c.483-819G>T (NPR2) | ENSP00000393029.1:n.483-819G>T | |
| ENST00000448821.5:c.278G>T (NPR2) | ||
| ENST00000460836.5:n.417-527C>A (SPAG8) | ||
| ENST00000463889.5:n.467-527C>A (SPAG8) | ||
| ENST00000464810.5:n.3037G>T (NPR2) | ||
| ENST00000469249.1:n.433G>T (NPR2) | ||
| ENST00000475644.5:c.*826-527C>A (SPAG8) | ENSP00000418530.1:n.*826-527C>A | |
| ENST00000489063.1:n.475-527C>A (SPAG8) | ||
| NM_003995.3:c.2966G>T (NPR2) | NP_003986.2:p.Arg989Leu | |
| NM_172312.1:c.1373-527C>A (SPAG8) | NP_758516.1:n.1373-527C>A | |
| XM_005251438.1:c.1201-527C>A (SPAG8) | XP_005251495.1:n.1201-527C>A | |
| XM_005251478.3:c.2975G>T (NPR2) | XP_005251535.1:p.Arg992Leu | |
| XM_005251479.3:c.1988G>T (NPR2) | XP_005251536.1:p.Arg663Leu | |
| XM_006716778.2:c.2903G>T (NPR2) | XP_006716841.1:p.Arg968Leu | |
| XM_011517889.1:c.1988G>T (NPR2) | XP_011516191.1:p.Arg663Leu | |
| XM_011517890.1:c.1988G>T (NPR2) | XP_011516192.1:p.Arg663Leu | |
| XM_011517891.1:c.1988G>T (NPR2) | XP_011516193.1:p.Arg663Leu | |
| XM_011517892.1:c.1988G>T (NPR2) | XP_011516194.1:p.Arg663Leu | |
| XM_011517893.1:c.1988G>T (NPR2) | XP_011516195.1:p.Arg663Leu | |
| XM_011517894.1:c.1988G>T (NPR2) | XP_011516196.1:p.Arg663Leu | |
| XM_011517895.1:c.1571G>T (NPR2) | XP_011516197.1:p.Arg524Leu | |
| XM_024447512.1:c.1210-527C>A (SPAG8) | XP_024303280.1:n.1210-527C>A | |
| XM_024447513.1:c.1201-527C>A (SPAG8) | XP_024303281.1:n.1201-527C>A | |
| XM_024447556.1:c.3134G>T (NPR2) | XP_024303324.1:p.Arg1045Leu | |
| XM_024447557.1:c.3125G>T (NPR2) | XP_024303325.1:p.Arg1042Leu | |
| XM_024447558.1:c.2147G>T (NPR2) | XP_024303326.1:p.Arg716Leu | |
| XM_024447559.1:c.1730G>T (NPR2) | XP_024303327.1:p.Arg577Leu | |
| XM_024447560.1:c.1721G>T (NPR2) | XP_024303328.1:p.Arg574Leu | |
| XM_024447561.1:c.1562G>T (NPR2) | XP_024303329.1:p.Arg521Leu | |
| XR_002956772.1:n.1313-527C>A (SPAG8) | ||
| NM_001366760.2:c.1201-527C>A (SPAG8) | NP_001353689.1:n.1201-527C>A | |
| NM_003995.4:c.2966G>T (NPR2) MANE Select | NP_003986.2:p.Arg989Leu | |
| NM_172312.2:c.1373-527C>A (SPAG8) | NP_758516.1:n.1373-527C>A | |
| NR_159431.2:n.1303-527C>A (SPAG8) | ||
| NM_001378923.1:c.2975G>T (NPR2) | NP_001365852.1:p.Arg992Leu |