Canonical Allele Identifier: CA5052223
Community Standard Title: NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35809420G>A , CM000671.2:g.35809420G>A GRCh38
NC_000009.11:g.35809417G>A , CM000671.1:g.35809417G>A GRCh37
NC_000009.10:g.35799417G>A NCBI36
NG_009249.1:g.22012G>A
NG_047141.1:g.7853C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.3119G>A (NPR2) MANE Select NP_003986.2:p.Arg1040Gln
ENST00000342694.7:c.3119G>A (NPR2) MANE Select ENSP00000341083.2:p.Arg1040Gln
NM_001366760.2:c.1200+1019C>T (SPAG8) NP_001353689.1:n.1200+1019C>T
NM_001378923.1:c.3128G>A (NPR2) NP_001365852.1:p.Arg1043Gln
NM_003995.3:c.3119G>A (NPR2) NP_003986.2:p.Arg1040Gln
NM_172312.1:c.1356C>T (SPAG8) NP_758516.1:p.Ser452=
NM_172312.2:c.1356C>T (SPAG8) NP_758516.1:p.Ser452=
NR_159431.2:n.1302+1019C>T (SPAG8)
ENST00000340291.6:c.1356C>T (SPAG8) ENSP00000340982.2:p.Ser452=
ENST00000342694.6:c.3119G>A (NPR2) ENSP00000341083.2:p.Arg1040Gln
ENST00000421267.6:c.1159G>A (NPR2)
ENST00000447210.5:c.483-232G>A (NPR2) ENSP00000393029.1:n.483-232G>A
ENST00000448821.5:c.431G>A (NPR2)
ENST00000448821.6:c.2944G>A (NPR2) ENSP00000402902.2:n.2944G>A
ENST00000460836.5:n.416+827C>T (SPAG8)
ENST00000463889.5:n.466+1019C>T (SPAG8)
ENST00000464810.5:n.3190G>A (NPR2)
ENST00000469249.1:n.586G>A (NPR2)
ENST00000475644.5:c.*809C>T (SPAG8) ENSP00000418530.1:n.*809C>T
ENST00000489063.1:n.458C>T (SPAG8)
ENST00000685871.1:c.3047G>A (NPR2) ENSP00000509964.1:p.Arg1016Gln
ENST00000686159.1:n.3158G>A (NPR2)
ENST00000686486.1:n.2360G>A (NPR2)
ENST00000687302.1:n.3304G>A (NPR2)
ENST00000687357.1:c.2972G>A (NPR2) ENSP00000509549.1:p.Arg991Gln
ENST00000687625.1:n.2274G>A (NPR2)
ENST00000687787.1:c.3278G>A (NPR2) ENSP00000509440.1:p.Arg1093Gln
ENST00000688201.1:n.3076G>A (NPR2)
ENST00000688226.1:n.3051G>A (NPR2)
ENST00000688869.1:n.3425G>A (NPR2)
ENST00000689788.1:c.2913G>A (NPR2) ENSP00000508973.1:n.2913G>A
ENST00000689898.1:c.2976G>A (NPR2) ENSP00000509651.1:n.2976G>A
ENST00000690070.1:c.3203G>A (NPR2) ENSP00000509654.1:p.Arg1068Gln
ENST00000690267.1:c.2908G>A (NPR2) ENSP00000510432.1:n.2908G>A
ENST00000690552.1:n.3464G>A (NPR2)
ENST00000691138.1:n.3463G>A (NPR2)
ENST00000691969.1:c.2619G>A (NPR2) ENSP00000510244.1:n.2619G>A
ENST00000692232.1:n.4434G>A (NPR2)
ENST00000692233.1:c.2983G>A (NPR2) ENSP00000509698.1:n.2983G>A
ENST00000692380.1:n.2274G>A (NPR2)
ENST00000692447.1:n.4235G>A (NPR2)
ENST00000693094.1:c.3209G>A (NPR2) ENSP00000510161.1:p.Arg1070Gln
XM_005251438.1:c.1200+1019C>T (SPAG8) XP_005251495.1:n.1200+1019C>T
XM_005251478.3:c.3128G>A (NPR2) XP_005251535.1:p.Arg1043Gln
XM_005251479.3:c.2141G>A (NPR2) XP_005251536.1:p.Arg714Gln
XM_006716778.2:c.3056G>A (NPR2) XP_006716841.1:p.Arg1019Gln
XM_011517889.1:c.2141G>A (NPR2) XP_011516191.1:p.Arg714Gln
XM_011517890.1:c.2141G>A (NPR2) XP_011516192.1:p.Arg714Gln
XM_011517891.1:c.2141G>A (NPR2) XP_011516193.1:p.Arg714Gln
XM_011517892.1:c.2141G>A (NPR2) XP_011516194.1:p.Arg714Gln
XM_011517893.1:c.2141G>A (NPR2) XP_011516195.1:p.Arg714Gln
XM_011517894.1:c.2141G>A (NPR2) XP_011516196.1:p.Arg714Gln
XM_011517895.1:c.1724G>A (NPR2) XP_011516197.1:p.Arg575Gln
XM_024447512.1:c.1209+1019C>T (SPAG8) XP_024303280.1:n.1209+1019C>T
XM_024447513.1:c.1200+1019C>T (SPAG8) XP_024303281.1:n.1200+1019C>T
XM_024447556.1:c.3287G>A (NPR2) XP_024303324.1:p.Arg1096Gln
XM_024447557.1:c.3278G>A (NPR2) XP_024303325.1:p.Arg1093Gln
XM_024447558.1:c.2300G>A (NPR2) XP_024303326.1:p.Arg767Gln
XM_024447559.1:c.1883G>A (NPR2) XP_024303327.1:p.Arg628Gln
XM_024447560.1:c.1874G>A (NPR2) XP_024303328.1:p.Arg625Gln
XM_024447561.1:c.1715G>A (NPR2) XP_024303329.1:p.Arg572Gln
XR_002956772.1:n.1312+1019C>T (SPAG8)