Canonical Allele Identifier: CA373385474
Community Standard Title: NM_003995.4(NPR2):c.2870G>A (p.Arg957His)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35808666G>A , CM000671.2:g.35808666G>A GRCh38
NC_000009.11:g.35808663G>A , CM000671.1:g.35808663G>A GRCh37
NC_000009.10:g.35798663G>A NCBI36
NG_009249.1:g.21258G>A
NG_047141.1:g.8607C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2870G>A (NPR2) MANE Select NP_003986.2:p.Arg957His
ENST00000342694.7:c.2870G>A (NPR2) MANE Select ENSP00000341083.2:p.Arg957His
NM_001366760.2:c.1201-360C>T (SPAG8) NP_001353689.1:n.1201-360C>T
NM_001378923.1:c.2879G>A (NPR2) NP_001365852.1:p.Arg960His
NM_003995.3:c.2870G>A (NPR2) NP_003986.2:p.Arg957His
NM_172312.1:c.1373-360C>T (SPAG8) NP_758516.1:n.1373-360C>T
NM_172312.2:c.1373-360C>T (SPAG8) NP_758516.1:n.1373-360C>T
NR_159431.2:n.1303-360C>T (SPAG8)
ENST00000340291.6:c.1373-360C>T (SPAG8) ENSP00000340982.2:n.1373-360C>T
ENST00000342694.6:c.2870G>A (NPR2) ENSP00000341083.2:p.Arg957His
ENST00000421267.6:c.910G>A (NPR2)
ENST00000447210.5:c.483-986G>A (NPR2) ENSP00000393029.1:n.483-986G>A
ENST00000448821.5:c.200-89G>A (NPR2)
ENST00000448821.6:c.2713-89G>A (NPR2) ENSP00000402902.2:n.2713-89G>A
ENST00000460836.5:n.417-360C>T (SPAG8)
ENST00000463889.5:n.467-360C>T (SPAG8)
ENST00000464810.5:n.2870G>A (NPR2)
ENST00000469249.1:n.266G>A (NPR2)
ENST00000475644.5:c.*826-360C>T (SPAG8) ENSP00000418530.1:n.*826-360C>T
ENST00000489063.1:n.475-360C>T (SPAG8)
ENST00000685871.1:c.2798G>A (NPR2) ENSP00000509964.1:p.Arg933His
ENST00000686159.1:n.2909G>A (NPR2)
ENST00000686486.1:n.2040G>A (NPR2)
ENST00000687302.1:n.2984G>A (NPR2)
ENST00000687357.1:c.2723G>A (NPR2) ENSP00000509549.1:p.Arg908His
ENST00000687625.1:n.2025G>A (NPR2)
ENST00000687787.1:c.3029G>A (NPR2) ENSP00000509440.1:p.Arg1010His
ENST00000688201.1:n.2827G>A (NPR2)
ENST00000688226.1:n.2802G>A (NPR2)
ENST00000688869.1:n.3176G>A (NPR2)
ENST00000689788.1:c.2664G>A (NPR2) ENSP00000508973.1:n.2664G>A
ENST00000689898.1:c.2727G>A (NPR2) ENSP00000509651.1:n.2727G>A
ENST00000690070.1:c.2954G>A (NPR2) ENSP00000509654.1:p.Arg985His
ENST00000690267.1:c.2659G>A (NPR2) ENSP00000510432.1:n.2659G>A
ENST00000690552.1:n.3215G>A (NPR2)
ENST00000691138.1:n.3143G>A (NPR2)
ENST00000691969.1:c.2370G>A (NPR2) ENSP00000510244.1:n.2370G>A
ENST00000692232.1:n.4185G>A (NPR2)
ENST00000692233.1:c.2734G>A (NPR2) ENSP00000509698.1:n.2734G>A
ENST00000692380.1:n.2025G>A (NPR2)
ENST00000692447.1:n.3986G>A (NPR2)
ENST00000693094.1:c.2960G>A (NPR2) ENSP00000510161.1:p.Arg987His
XM_005251438.1:c.1201-360C>T (SPAG8) XP_005251495.1:n.1201-360C>T
XM_005251478.3:c.2879G>A (NPR2) XP_005251535.1:p.Arg960His
XM_005251479.3:c.1892G>A (NPR2) XP_005251536.1:p.Arg631His
XM_006716778.2:c.2807G>A (NPR2) XP_006716841.1:p.Arg936His
XM_011517889.1:c.1892G>A (NPR2) XP_011516191.1:p.Arg631His
XM_011517890.1:c.1892G>A (NPR2) XP_011516192.1:p.Arg631His
XM_011517891.1:c.1892G>A (NPR2) XP_011516193.1:p.Arg631His
XM_011517892.1:c.1892G>A (NPR2) XP_011516194.1:p.Arg631His
XM_011517893.1:c.1892G>A (NPR2) XP_011516195.1:p.Arg631His
XM_011517894.1:c.1892G>A (NPR2) XP_011516196.1:p.Arg631His
XM_011517895.1:c.1475G>A (NPR2) XP_011516197.1:p.Arg492His
XM_024447512.1:c.1210-360C>T (SPAG8) XP_024303280.1:n.1210-360C>T
XM_024447513.1:c.1201-360C>T (SPAG8) XP_024303281.1:n.1201-360C>T
XM_024447556.1:c.3038G>A (NPR2) XP_024303324.1:p.Arg1013His
XM_024447557.1:c.3029G>A (NPR2) XP_024303325.1:p.Arg1010His
XM_024447558.1:c.2051G>A (NPR2) XP_024303326.1:p.Arg684His
XM_024447559.1:c.1634G>A (NPR2) XP_024303327.1:p.Arg545His
XM_024447560.1:c.1625G>A (NPR2) XP_024303328.1:p.Arg542His
XM_024447561.1:c.1466G>A (NPR2) XP_024303329.1:p.Arg489His
XR_002956772.1:n.1313-360C>T (SPAG8)