Canonical Allele Identifier: CA1846154057
Community Standard Title: NM_003995.4(NPR2):c.2966G= (p.Arg989=)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35808833G= , CM000671.2:g.35808833G= GRCh38
NC_000009.11:g.35808830G= , CM000671.1:g.35808830G= GRCh37
NC_000009.10:g.35798830G= NCBI36
NG_009249.1:g.21425G=
NG_047141.1:g.8440C=

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2966G= (NPR2) MANE Select NP_003986.2:p.Arg989=
ENST00000342694.7:c.2966G= (NPR2) MANE Select ENSP00000341083.2:p.Arg989=
NM_001366760.2:c.1201-527C= (SPAG8) NP_001353689.1:n.1201-527C=
NM_001378923.1:c.2975G= (NPR2) NP_001365852.1:p.Arg992=
NM_003995.3:c.2966G= (NPR2) NP_003986.2:p.Arg989=
NM_172312.1:c.1373-527C= (SPAG8) NP_758516.1:n.1373-527C=
NM_172312.2:c.1373-527C= (SPAG8) NP_758516.1:n.1373-527C=
NR_159431.2:n.1303-527C= (SPAG8)
ENST00000340291.6:c.1373-527C= (SPAG8) ENSP00000340982.2:n.1373-527C=
ENST00000342694.6:c.2966G= (NPR2) ENSP00000341083.2:p.Arg989=
ENST00000421267.6:c.1006G= (NPR2)
ENST00000447210.5:c.483-819G= (NPR2) ENSP00000393029.1:n.483-819G=
ENST00000448821.5:c.278G= (NPR2)
ENST00000448821.6:c.2791G= (NPR2) ENSP00000402902.2:n.2791G=
ENST00000460836.5:n.417-527C= (SPAG8)
ENST00000463889.5:n.467-527C= (SPAG8)
ENST00000464810.5:n.3037G= (NPR2)
ENST00000469249.1:n.433G= (NPR2)
ENST00000475644.5:c.*826-527C= (SPAG8) ENSP00000418530.1:n.*826-527C=
ENST00000489063.1:n.475-527C= (SPAG8)
ENST00000685871.1:c.2894G= (NPR2) ENSP00000509964.1:p.Arg965=
ENST00000686159.1:n.3005G= (NPR2)
ENST00000686486.1:n.2207G= (NPR2)
ENST00000687302.1:n.3151G= (NPR2)
ENST00000687357.1:c.2819G= (NPR2) ENSP00000509549.1:p.Arg940=
ENST00000687625.1:n.2121G= (NPR2)
ENST00000687787.1:c.3125G= (NPR2) ENSP00000509440.1:p.Arg1042=
ENST00000688201.1:n.2923G= (NPR2)
ENST00000688226.1:n.2898G= (NPR2)
ENST00000688869.1:n.3272G= (NPR2)
ENST00000689788.1:c.2760G= (NPR2) ENSP00000508973.1:n.2760G=
ENST00000689898.1:c.2823G= (NPR2) ENSP00000509651.1:n.2823G=
ENST00000690070.1:c.3050G= (NPR2) ENSP00000509654.1:p.Arg1017=
ENST00000690267.1:c.2755G= (NPR2) ENSP00000510432.1:n.2755G=
ENST00000690552.1:n.3311G= (NPR2)
ENST00000691138.1:n.3310G= (NPR2)
ENST00000691969.1:c.2466G= (NPR2) ENSP00000510244.1:n.2466G=
ENST00000692232.1:n.4281G= (NPR2)
ENST00000692233.1:c.2830G= (NPR2) ENSP00000509698.1:n.2830G=
ENST00000692380.1:n.2121G= (NPR2)
ENST00000692447.1:n.4082G= (NPR2)
ENST00000693094.1:c.3056G= (NPR2) ENSP00000510161.1:p.Arg1019=
XM_005251438.1:c.1201-527C= (SPAG8) XP_005251495.1:n.1201-527C=
XM_005251478.3:c.2975G= (NPR2) XP_005251535.1:p.Arg992=
XM_005251479.3:c.1988G= (NPR2) XP_005251536.1:p.Arg663=
XM_006716778.2:c.2903G= (NPR2) XP_006716841.1:p.Arg968=
XM_011517889.1:c.1988G= (NPR2) XP_011516191.1:p.Arg663=
XM_011517890.1:c.1988G= (NPR2) XP_011516192.1:p.Arg663=
XM_011517891.1:c.1988G= (NPR2) XP_011516193.1:p.Arg663=
XM_011517892.1:c.1988G= (NPR2) XP_011516194.1:p.Arg663=
XM_011517893.1:c.1988G= (NPR2) XP_011516195.1:p.Arg663=
XM_011517894.1:c.1988G= (NPR2) XP_011516196.1:p.Arg663=
XM_011517895.1:c.1571G= (NPR2) XP_011516197.1:p.Arg524=
XM_024447512.1:c.1210-527C= (SPAG8) XP_024303280.1:n.1210-527C=
XM_024447513.1:c.1201-527C= (SPAG8) XP_024303281.1:n.1201-527C=
XM_024447556.1:c.3134G= (NPR2) XP_024303324.1:p.Arg1045=
XM_024447557.1:c.3125G= (NPR2) XP_024303325.1:p.Arg1042=
XM_024447558.1:c.2147G= (NPR2) XP_024303326.1:p.Arg716=
XM_024447559.1:c.1730G= (NPR2) XP_024303327.1:p.Arg577=
XM_024447560.1:c.1721G= (NPR2) XP_024303328.1:p.Arg574=
XM_024447561.1:c.1562G= (NPR2) XP_024303329.1:p.Arg521=
XR_002956772.1:n.1313-527C= (SPAG8)