Canonical Allele Identifier: CA192773213
Community Standard Title: NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35808665C>T , CM000671.2:g.35808665C>T GRCh38
NC_000009.11:g.35808662C>T , CM000671.1:g.35808662C>T GRCh37
NC_000009.10:g.35798662C>T NCBI36
NG_009249.1:g.21257C>T
NG_047141.1:g.8608G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2869C>T (NPR2) MANE Select NP_003986.2:p.Arg957Cys
ENST00000342694.7:c.2869C>T (NPR2) MANE Select ENSP00000341083.2:p.Arg957Cys
NM_001366760.2:c.1201-359G>A (SPAG8) NP_001353689.1:n.1201-359G>A
NM_001378923.1:c.2878C>T (NPR2) NP_001365852.1:p.Arg960Cys
NM_003995.3:c.2869C>T (NPR2) NP_003986.2:p.Arg957Cys
NM_172312.1:c.1373-359G>A (SPAG8) NP_758516.1:n.1373-359G>A
NM_172312.2:c.1373-359G>A (SPAG8) NP_758516.1:n.1373-359G>A
NR_159431.2:n.1303-359G>A (SPAG8)
ENST00000340291.6:c.1373-359G>A (SPAG8) ENSP00000340982.2:n.1373-359G>A
ENST00000342694.6:c.2869C>T (NPR2) ENSP00000341083.2:p.Arg957Cys
ENST00000421267.6:c.909C>T (NPR2)
ENST00000447210.5:c.483-987C>T (NPR2) ENSP00000393029.1:n.483-987C>T
ENST00000448821.5:c.200-90C>T (NPR2)
ENST00000448821.6:c.2713-90C>T (NPR2) ENSP00000402902.2:n.2713-90C>T
ENST00000460836.5:n.417-359G>A (SPAG8)
ENST00000463889.5:n.467-359G>A (SPAG8)
ENST00000464810.5:n.2869C>T (NPR2)
ENST00000469249.1:n.265C>T (NPR2)
ENST00000475644.5:c.*826-359G>A (SPAG8) ENSP00000418530.1:n.*826-359G>A
ENST00000489063.1:n.475-359G>A (SPAG8)
ENST00000685871.1:c.2797C>T (NPR2) ENSP00000509964.1:p.Arg933Cys
ENST00000686159.1:n.2908C>T (NPR2)
ENST00000686486.1:n.2039C>T (NPR2)
ENST00000687302.1:n.2983C>T (NPR2)
ENST00000687357.1:c.2722C>T (NPR2) ENSP00000509549.1:p.Arg908Cys
ENST00000687625.1:n.2024C>T (NPR2)
ENST00000687787.1:c.3028C>T (NPR2) ENSP00000509440.1:p.Arg1010Cys
ENST00000688201.1:n.2826C>T (NPR2)
ENST00000688226.1:n.2801C>T (NPR2)
ENST00000688869.1:n.3175C>T (NPR2)
ENST00000689788.1:c.2663C>T (NPR2) ENSP00000508973.1:n.2663C>T
ENST00000689898.1:c.2726C>T (NPR2) ENSP00000509651.1:n.2726C>T
ENST00000690070.1:c.2953C>T (NPR2) ENSP00000509654.1:p.Arg985Cys
ENST00000690267.1:c.2658C>T (NPR2) ENSP00000510432.1:n.2658C>T
ENST00000690552.1:n.3214C>T (NPR2)
ENST00000691138.1:n.3142C>T (NPR2)
ENST00000691969.1:c.2369C>T (NPR2) ENSP00000510244.1:n.2369C>T
ENST00000692232.1:n.4184C>T (NPR2)
ENST00000692233.1:c.2733C>T (NPR2) ENSP00000509698.1:n.2733C>T
ENST00000692380.1:n.2024C>T (NPR2)
ENST00000692447.1:n.3985C>T (NPR2)
ENST00000693094.1:c.2959C>T (NPR2) ENSP00000510161.1:p.Arg987Cys
XM_005251438.1:c.1201-359G>A (SPAG8) XP_005251495.1:n.1201-359G>A
XM_005251478.3:c.2878C>T (NPR2) XP_005251535.1:p.Arg960Cys
XM_005251479.3:c.1891C>T (NPR2) XP_005251536.1:p.Arg631Cys
XM_006716778.2:c.2806C>T (NPR2) XP_006716841.1:p.Arg936Cys
XM_011517889.1:c.1891C>T (NPR2) XP_011516191.1:p.Arg631Cys
XM_011517890.1:c.1891C>T (NPR2) XP_011516192.1:p.Arg631Cys
XM_011517891.1:c.1891C>T (NPR2) XP_011516193.1:p.Arg631Cys
XM_011517892.1:c.1891C>T (NPR2) XP_011516194.1:p.Arg631Cys
XM_011517893.1:c.1891C>T (NPR2) XP_011516195.1:p.Arg631Cys
XM_011517894.1:c.1891C>T (NPR2) XP_011516196.1:p.Arg631Cys
XM_011517895.1:c.1474C>T (NPR2) XP_011516197.1:p.Arg492Cys
XM_024447512.1:c.1210-359G>A (SPAG8) XP_024303280.1:n.1210-359G>A
XM_024447513.1:c.1201-359G>A (SPAG8) XP_024303281.1:n.1201-359G>A
XM_024447556.1:c.3037C>T (NPR2) XP_024303324.1:p.Arg1013Cys
XM_024447557.1:c.3028C>T (NPR2) XP_024303325.1:p.Arg1010Cys
XM_024447558.1:c.2050C>T (NPR2) XP_024303326.1:p.Arg684Cys
XM_024447559.1:c.1633C>T (NPR2) XP_024303327.1:p.Arg545Cys
XM_024447560.1:c.1624C>T (NPR2) XP_024303328.1:p.Arg542Cys
XM_024447561.1:c.1465C>T (NPR2) XP_024303329.1:p.Arg489Cys
XR_002956772.1:n.1313-359G>A (SPAG8)