Canonical Allele Identifier: CA373386180
Community Standard Title: NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35808832C>T , CM000671.2:g.35808832C>T GRCh38
NC_000009.11:g.35808829C>T , CM000671.1:g.35808829C>T GRCh37
NC_000009.10:g.35798829C>T NCBI36
NG_009249.1:g.21424C>T
NG_047141.1:g.8441G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2965C>T (NPR2) MANE Select NP_003986.2:p.Arg989Ter
ENST00000342694.7:c.2965C>T (NPR2) MANE Select ENSP00000341083.2:p.Arg989Ter
NM_001366760.2:c.1201-526G>A (SPAG8) NP_001353689.1:n.1201-526G>A
NM_001378923.1:c.2974C>T (NPR2) NP_001365852.1:p.Arg992Ter
NM_003995.3:c.2965C>T (NPR2) NP_003986.2:p.Arg989Ter
NM_172312.1:c.1373-526G>A (SPAG8) NP_758516.1:n.1373-526G>A
NM_172312.2:c.1373-526G>A (SPAG8) NP_758516.1:n.1373-526G>A
NR_159431.2:n.1303-526G>A (SPAG8)
ENST00000340291.6:c.1373-526G>A (SPAG8) ENSP00000340982.2:n.1373-526G>A
ENST00000342694.6:c.2965C>T (NPR2) ENSP00000341083.2:p.Arg989Ter
ENST00000421267.6:c.1005C>T (NPR2)
ENST00000447210.5:c.483-820C>T (NPR2) ENSP00000393029.1:n.483-820C>T
ENST00000448821.5:c.277C>T (NPR2)
ENST00000448821.6:c.2790C>T (NPR2) ENSP00000402902.2:n.2790C>T
ENST00000460836.5:n.417-526G>A (SPAG8)
ENST00000463889.5:n.467-526G>A (SPAG8)
ENST00000464810.5:n.3036C>T (NPR2)
ENST00000469249.1:n.432C>T (NPR2)
ENST00000475644.5:c.*826-526G>A (SPAG8) ENSP00000418530.1:n.*826-526G>A
ENST00000489063.1:n.475-526G>A (SPAG8)
ENST00000685871.1:c.2893C>T (NPR2) ENSP00000509964.1:p.Arg965Ter
ENST00000686159.1:n.3004C>T (NPR2)
ENST00000686486.1:n.2206C>T (NPR2)
ENST00000687302.1:n.3150C>T (NPR2)
ENST00000687357.1:c.2818C>T (NPR2) ENSP00000509549.1:p.Arg940Ter
ENST00000687625.1:n.2120C>T (NPR2)
ENST00000687787.1:c.3124C>T (NPR2) ENSP00000509440.1:p.Arg1042Ter
ENST00000688201.1:n.2922C>T (NPR2)
ENST00000688226.1:n.2897C>T (NPR2)
ENST00000688869.1:n.3271C>T (NPR2)
ENST00000689788.1:c.2759C>T (NPR2) ENSP00000508973.1:n.2759C>T
ENST00000689898.1:c.2822C>T (NPR2) ENSP00000509651.1:n.2822C>T
ENST00000690070.1:c.3049C>T (NPR2) ENSP00000509654.1:p.Arg1017Ter
ENST00000690267.1:c.2754C>T (NPR2) ENSP00000510432.1:n.2754C>T
ENST00000690552.1:n.3310C>T (NPR2)
ENST00000691138.1:n.3309C>T (NPR2)
ENST00000691969.1:c.2465C>T (NPR2) ENSP00000510244.1:n.2465C>T
ENST00000692232.1:n.4280C>T (NPR2)
ENST00000692233.1:c.2829C>T (NPR2) ENSP00000509698.1:n.2829C>T
ENST00000692380.1:n.2120C>T (NPR2)
ENST00000692447.1:n.4081C>T (NPR2)
ENST00000693094.1:c.3055C>T (NPR2) ENSP00000510161.1:p.Arg1019Ter
XM_005251438.1:c.1201-526G>A (SPAG8) XP_005251495.1:n.1201-526G>A
XM_005251478.3:c.2974C>T (NPR2) XP_005251535.1:p.Arg992Ter
XM_005251479.3:c.1987C>T (NPR2) XP_005251536.1:p.Arg663Ter
XM_006716778.2:c.2902C>T (NPR2) XP_006716841.1:p.Arg968Ter
XM_011517889.1:c.1987C>T (NPR2) XP_011516191.1:p.Arg663Ter
XM_011517890.1:c.1987C>T (NPR2) XP_011516192.1:p.Arg663Ter
XM_011517891.1:c.1987C>T (NPR2) XP_011516193.1:p.Arg663Ter
XM_011517892.1:c.1987C>T (NPR2) XP_011516194.1:p.Arg663Ter
XM_011517893.1:c.1987C>T (NPR2) XP_011516195.1:p.Arg663Ter
XM_011517894.1:c.1987C>T (NPR2) XP_011516196.1:p.Arg663Ter
XM_011517895.1:c.1570C>T (NPR2) XP_011516197.1:p.Arg524Ter
XM_024447512.1:c.1210-526G>A (SPAG8) XP_024303280.1:n.1210-526G>A
XM_024447513.1:c.1201-526G>A (SPAG8) XP_024303281.1:n.1201-526G>A
XM_024447556.1:c.3133C>T (NPR2) XP_024303324.1:p.Arg1045Ter
XM_024447557.1:c.3124C>T (NPR2) XP_024303325.1:p.Arg1042Ter
XM_024447558.1:c.2146C>T (NPR2) XP_024303326.1:p.Arg716Ter
XM_024447559.1:c.1729C>T (NPR2) XP_024303327.1:p.Arg577Ter
XM_024447560.1:c.1720C>T (NPR2) XP_024303328.1:p.Arg574Ter
XM_024447561.1:c.1561C>T (NPR2) XP_024303329.1:p.Arg521Ter
XR_002956772.1:n.1313-526G>A (SPAG8)