Canonical Allele Identifier: CA5052134
Community Standard Title: NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35808629C>T , CM000671.2:g.35808629C>T GRCh38
NC_000009.11:g.35808626C>T , CM000671.1:g.35808626C>T GRCh37
NC_000009.10:g.35798626C>T NCBI36
NG_009249.1:g.21221C>T
NG_047141.1:g.8644G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2833C>T (NPR2) MANE Select NP_003986.2:p.Arg945Cys
ENST00000342694.7:c.2833C>T (NPR2) MANE Select ENSP00000341083.2:p.Arg945Cys
NM_001366760.2:c.1201-323G>A (SPAG8) NP_001353689.1:n.1201-323G>A
NM_001378923.1:c.2842C>T (NPR2) NP_001365852.1:p.Arg948Cys
NM_003995.3:c.2833C>T (NPR2) NP_003986.2:p.Arg945Cys
NM_172312.1:c.1373-323G>A (SPAG8) NP_758516.1:n.1373-323G>A
NM_172312.2:c.1373-323G>A (SPAG8) NP_758516.1:n.1373-323G>A
NR_159431.2:n.1303-323G>A (SPAG8)
ENST00000340291.6:c.1373-323G>A (SPAG8) ENSP00000340982.2:n.1373-323G>A
ENST00000342694.6:c.2833C>T (NPR2) ENSP00000341083.2:p.Arg945Cys
ENST00000421267.6:c.873C>T (NPR2)
ENST00000447210.5:c.483-1023C>T (NPR2) ENSP00000393029.1:n.483-1023C>T
ENST00000448821.5:c.200-126C>T (NPR2)
ENST00000448821.6:c.2713-126C>T (NPR2) ENSP00000402902.2:n.2713-126C>T
ENST00000460836.5:n.417-323G>A (SPAG8)
ENST00000463889.5:n.467-323G>A (SPAG8)
ENST00000464810.5:n.2833C>T (NPR2)
ENST00000469249.1:n.229C>T (NPR2)
ENST00000475644.5:c.*826-323G>A (SPAG8) ENSP00000418530.1:n.*826-323G>A
ENST00000489063.1:n.475-323G>A (SPAG8)
ENST00000685871.1:c.2761C>T (NPR2) ENSP00000509964.1:p.Arg921Cys
ENST00000686159.1:n.2872C>T (NPR2)
ENST00000686486.1:n.2003C>T (NPR2)
ENST00000687302.1:n.2947C>T (NPR2)
ENST00000687357.1:c.2686C>T (NPR2) ENSP00000509549.1:p.Arg896Cys
ENST00000687625.1:n.1988C>T (NPR2)
ENST00000687787.1:c.2992C>T (NPR2) ENSP00000509440.1:p.Arg998Cys
ENST00000688201.1:n.2790C>T (NPR2)
ENST00000688226.1:n.2765C>T (NPR2)
ENST00000688869.1:n.3139C>T (NPR2)
ENST00000689788.1:c.2627C>T (NPR2) ENSP00000508973.1:n.2627C>T
ENST00000689898.1:c.2690C>T (NPR2) ENSP00000509651.1:n.2690C>T
ENST00000690070.1:c.2917C>T (NPR2) ENSP00000509654.1:p.Arg973Cys
ENST00000690267.1:c.2622C>T (NPR2) ENSP00000510432.1:n.2622C>T
ENST00000690552.1:n.3178C>T (NPR2)
ENST00000691138.1:n.3106C>T (NPR2)
ENST00000691969.1:c.2333C>T (NPR2) ENSP00000510244.1:n.2333C>T
ENST00000692232.1:n.4148C>T (NPR2)
ENST00000692233.1:c.2697C>T (NPR2) ENSP00000509698.1:n.2697C>T
ENST00000692380.1:n.1988C>T (NPR2)
ENST00000692447.1:n.3949C>T (NPR2)
ENST00000693094.1:c.2923C>T (NPR2) ENSP00000510161.1:p.Arg975Cys
XM_005251438.1:c.1201-323G>A (SPAG8) XP_005251495.1:n.1201-323G>A
XM_005251478.3:c.2842C>T (NPR2) XP_005251535.1:p.Arg948Cys
XM_005251479.3:c.1855C>T (NPR2) XP_005251536.1:p.Arg619Cys
XM_006716778.2:c.2770C>T (NPR2) XP_006716841.1:p.Arg924Cys
XM_011517889.1:c.1855C>T (NPR2) XP_011516191.1:p.Arg619Cys
XM_011517890.1:c.1855C>T (NPR2) XP_011516192.1:p.Arg619Cys
XM_011517891.1:c.1855C>T (NPR2) XP_011516193.1:p.Arg619Cys
XM_011517892.1:c.1855C>T (NPR2) XP_011516194.1:p.Arg619Cys
XM_011517893.1:c.1855C>T (NPR2) XP_011516195.1:p.Arg619Cys
XM_011517894.1:c.1855C>T (NPR2) XP_011516196.1:p.Arg619Cys
XM_011517895.1:c.1438C>T (NPR2) XP_011516197.1:p.Arg480Cys
XM_024447512.1:c.1210-323G>A (SPAG8) XP_024303280.1:n.1210-323G>A
XM_024447513.1:c.1201-323G>A (SPAG8) XP_024303281.1:n.1201-323G>A
XM_024447556.1:c.3001C>T (NPR2) XP_024303324.1:p.Arg1001Cys
XM_024447557.1:c.2992C>T (NPR2) XP_024303325.1:p.Arg998Cys
XM_024447558.1:c.2014C>T (NPR2) XP_024303326.1:p.Arg672Cys
XM_024447559.1:c.1597C>T (NPR2) XP_024303327.1:p.Arg533Cys
XM_024447560.1:c.1588C>T (NPR2) XP_024303328.1:p.Arg530Cys
XM_024447561.1:c.1429C>T (NPR2) XP_024303329.1:p.Arg477Cys
XR_002956772.1:n.1313-323G>A (SPAG8)