Linked Data
ClinVar Variation Id:
288222
dbSNP Id:
rs138254005
ExAC:
9:35809385 A / C
gnomAD v2:
9-35809385-A-C
gnomAD v3:
9-35809388-A-C
gnomAD v4:
9-35809388-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35809388A>C , CM000671.2:g.35809388A>C | GRCh38 |
| NC_000009.11:g.35809385A>C , CM000671.1:g.35809385A>C | GRCh37 |
| NC_000009.10:g.35799385A>C | NCBI36 |
| NG_009249.1:g.21980A>C | |
| NG_047141.1:g.7885T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.1127A>C (NPR2) | ||
| ENST00000448821.6:c.2912A>C (NPR2) | ENSP00000402902.2:n.2912A>C | |
| ENST00000685871.1:c.3015A>C (NPR2) | ENSP00000509964.1:p.Gly1005= | |
| ENST00000686159.1:n.3126A>C (NPR2) | ||
| ENST00000686486.1:n.2328A>C (NPR2) | ||
| ENST00000687302.1:n.3272A>C (NPR2) | ||
| ENST00000687357.1:c.2940A>C (NPR2) | ENSP00000509549.1:p.Gly980= | |
| ENST00000687625.1:n.2242A>C (NPR2) | ||
| ENST00000687787.1:c.3246A>C (NPR2) | ENSP00000509440.1:p.Gly1082= | |
| ENST00000688201.1:n.3044A>C (NPR2) | ||
| ENST00000688226.1:n.3019A>C (NPR2) | ||
| ENST00000688869.1:n.3393A>C (NPR2) | ||
| ENST00000689788.1:c.2881A>C (NPR2) | ENSP00000508973.1:n.2881A>C | |
| ENST00000689898.1:c.2944A>C (NPR2) | ENSP00000509651.1:n.2944A>C | |
| ENST00000690070.1:c.3171A>C (NPR2) | ENSP00000509654.1:p.Gly1057= | |
| ENST00000690267.1:c.2876A>C (NPR2) | ENSP00000510432.1:n.2876A>C | |
| ENST00000690552.1:n.3432A>C (NPR2) | ||
| ENST00000691138.1:n.3431A>C (NPR2) | ||
| ENST00000691969.1:c.2587A>C (NPR2) | ENSP00000510244.1:n.2587A>C | |
| ENST00000692232.1:n.4402A>C (NPR2) | ||
| ENST00000692233.1:c.2951A>C (NPR2) | ENSP00000509698.1:n.2951A>C | |
| ENST00000692380.1:n.2242A>C (NPR2) | ||
| ENST00000692447.1:n.4203A>C (NPR2) | ||
| ENST00000693094.1:c.3177A>C (NPR2) | ENSP00000510161.1:p.Gly1059= | |
| ENST00000342694.7:c.3087A>C (NPR2) MANE Select | ENSP00000341083.2:p.Gly1029= | |
| ENST00000340291.6:c.1372+16T>G (SPAG8) | ENSP00000340982.2:n.1372+16T>G | |
| ENST00000342694.6:c.3087A>C (NPR2) | ENSP00000341083.2:p.Gly1029= | |
| ENST00000447210.5:c.483-264A>C (NPR2) | ENSP00000393029.1:n.483-264A>C | |
| ENST00000448821.5:c.399A>C (NPR2) | ||
| ENST00000460836.5:n.416+859T>G (SPAG8) | ||
| ENST00000463889.5:n.466+1051T>G (SPAG8) | ||
| ENST00000464810.5:n.3158A>C (NPR2) | ||
| ENST00000469249.1:n.554A>C (NPR2) | ||
| ENST00000475644.5:c.*825+16T>G (SPAG8) | ENSP00000418530.1:n.*825+16T>G | |
| ENST00000489063.1:n.474+16T>G (SPAG8) | ||
| NM_003995.3:c.3087A>C (NPR2) | NP_003986.2:p.Gly1029= | |
| NM_172312.1:c.1372+16T>G (SPAG8) | NP_758516.1:n.1372+16T>G | |
| XM_005251438.1:c.1200+1051T>G (SPAG8) | XP_005251495.1:n.1200+1051T>G | |
| XM_005251478.3:c.3096A>C (NPR2) | XP_005251535.1:p.Gly1032= | |
| XM_005251479.3:c.2109A>C (NPR2) | XP_005251536.1:p.Gly703= | |
| XM_006716778.2:c.3024A>C (NPR2) | XP_006716841.1:p.Gly1008= | |
| XM_011517889.1:c.2109A>C (NPR2) | XP_011516191.1:p.Gly703= | |
| XM_011517890.1:c.2109A>C (NPR2) | XP_011516192.1:p.Gly703= | |
| XM_011517891.1:c.2109A>C (NPR2) | XP_011516193.1:p.Gly703= | |
| XM_011517892.1:c.2109A>C (NPR2) | XP_011516194.1:p.Gly703= | |
| XM_011517893.1:c.2109A>C (NPR2) | XP_011516195.1:p.Gly703= | |
| XM_011517894.1:c.2109A>C (NPR2) | XP_011516196.1:p.Gly703= | |
| XM_011517895.1:c.1692A>C (NPR2) | XP_011516197.1:p.Gly564= | |
| XM_024447512.1:c.1209+1051T>G (SPAG8) | XP_024303280.1:n.1209+1051T>G | |
| XM_024447513.1:c.1200+1051T>G (SPAG8) | XP_024303281.1:n.1200+1051T>G | |
| XM_024447556.1:c.3255A>C (NPR2) | XP_024303324.1:p.Gly1085= | |
| XM_024447557.1:c.3246A>C (NPR2) | XP_024303325.1:p.Gly1082= | |
| XM_024447558.1:c.2268A>C (NPR2) | XP_024303326.1:p.Gly756= | |
| XM_024447559.1:c.1851A>C (NPR2) | XP_024303327.1:p.Gly617= | |
| XM_024447560.1:c.1842A>C (NPR2) | XP_024303328.1:p.Gly614= | |
| XM_024447561.1:c.1683A>C (NPR2) | XP_024303329.1:p.Gly561= | |
| XR_002956772.1:n.1312+1051T>G (SPAG8) | ||
| NM_001366760.2:c.1200+1051T>G (SPAG8) | NP_001353689.1:n.1200+1051T>G | |
| NM_003995.4:c.3087A>C (NPR2) MANE Select | NP_003986.2:p.Gly1029= | |
| NM_172312.2:c.1372+16T>G (SPAG8) | NP_758516.1:n.1372+16T>G | |
| NR_159431.2:n.1302+1051T>G (SPAG8) | ||
| NM_001378923.1:c.3096A>C (NPR2) | NP_001365852.1:p.Gly1032= |