Canonical Allele Identifier: CA373384949

Linked Data

ClinVar Variation Id: 449721
dbSNP Id: rs1554674642
gnomAD v4: 9-35808557-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35808557C>T , CM000671.2:g.35808557C>T GRCh38
NC_000009.11:g.35808554C>T , CM000671.1:g.35808554C>T GRCh37
NC_000009.10:g.35798554C>T NCBI36
NG_009249.1:g.21149C>T
NG_047141.1:g.8716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421267.6:c.801C>T (NPR2)
ENST00000448821.6:c.2713-198C>T (NPR2) ENSP00000402902.2:n.2713-198C>T
ENST00000685871.1:c.2689C>T (NPR2) ENSP00000509964.1:p.Arg897Ter
ENST00000686159.1:n.2800C>T (NPR2)
ENST00000686486.1:n.1931C>T (NPR2)
ENST00000687302.1:n.2875C>T (NPR2)
ENST00000687357.1:c.2614C>T (NPR2) ENSP00000509549.1:p.Arg872Ter
ENST00000687625.1:n.1916C>T (NPR2)
ENST00000687787.1:c.2920C>T (NPR2) ENSP00000509440.1:p.Arg974Ter
ENST00000688201.1:n.2718C>T (NPR2)
ENST00000688226.1:n.2693C>T (NPR2)
ENST00000688869.1:n.3067C>T (NPR2)
ENST00000689788.1:c.2555C>T (NPR2) ENSP00000508973.1:n.2555C>T
ENST00000689898.1:c.2618C>T (NPR2) ENSP00000509651.1:n.2618C>T
ENST00000690070.1:c.2845C>T (NPR2) ENSP00000509654.1:p.Arg949Ter
ENST00000690267.1:c.2550C>T (NPR2) ENSP00000510432.1:n.2550C>T
ENST00000690552.1:n.3106C>T (NPR2)
ENST00000691138.1:n.3034C>T (NPR2)
ENST00000691969.1:c.2261C>T (NPR2) ENSP00000510244.1:n.2261C>T
ENST00000692232.1:n.4076C>T (NPR2)
ENST00000692233.1:c.2625C>T (NPR2) ENSP00000509698.1:n.2625C>T
ENST00000692380.1:n.1916C>T (NPR2)
ENST00000692447.1:n.3877C>T (NPR2)
ENST00000693094.1:c.2851C>T (NPR2) ENSP00000510161.1:p.Arg951Ter
ENST00000342694.7:c.2761C>T (NPR2) MANE Select ENSP00000341083.2:p.Arg921Ter
ENST00000340291.6:c.1373-251G>A (SPAG8) ENSP00000340982.2:n.1373-251G>A
ENST00000342694.6:c.2761C>T (NPR2) ENSP00000341083.2:p.Arg921Ter
ENST00000421267.5:c.801C>T (NPR2)
ENST00000447210.5:c.483-1095C>T (NPR2) ENSP00000393029.1:n.483-1095C>T
ENST00000448821.5:c.200-198C>T (NPR2)
ENST00000460836.5:n.417-251G>A (SPAG8)
ENST00000463889.5:n.467-251G>A (SPAG8)
ENST00000464810.5:n.2761C>T (NPR2)
ENST00000469249.1:n.157C>T (NPR2)
ENST00000475644.5:c.*826-251G>A (SPAG8) ENSP00000418530.1:n.*826-251G>A
ENST00000489063.1:n.475-251G>A (SPAG8)
NM_003995.3:c.2761C>T (NPR2) NP_003986.2:p.Arg921Ter
NM_172312.1:c.1373-251G>A (SPAG8) NP_758516.1:n.1373-251G>A
XM_005251438.1:c.1201-251G>A (SPAG8) XP_005251495.1:n.1201-251G>A
XM_005251478.3:c.2770C>T (NPR2) XP_005251535.1:p.Arg924Ter
XM_005251479.3:c.1783C>T (NPR2) XP_005251536.1:p.Arg595Ter
XM_006716778.2:c.2698C>T (NPR2) XP_006716841.1:p.Arg900Ter
XM_011517889.1:c.1783C>T (NPR2) XP_011516191.1:p.Arg595Ter
XM_011517890.1:c.1783C>T (NPR2) XP_011516192.1:p.Arg595Ter
XM_011517891.1:c.1783C>T (NPR2) XP_011516193.1:p.Arg595Ter
XM_011517892.1:c.1783C>T (NPR2) XP_011516194.1:p.Arg595Ter
XM_011517893.1:c.1783C>T (NPR2) XP_011516195.1:p.Arg595Ter
XM_011517894.1:c.1783C>T (NPR2) XP_011516196.1:p.Arg595Ter
XM_011517895.1:c.1366C>T (NPR2) XP_011516197.1:p.Arg456Ter
XM_024447512.1:c.1210-251G>A (SPAG8) XP_024303280.1:n.1210-251G>A
XM_024447513.1:c.1201-251G>A (SPAG8) XP_024303281.1:n.1201-251G>A
XM_024447556.1:c.2929C>T (NPR2) XP_024303324.1:p.Arg977Ter
XM_024447557.1:c.2920C>T (NPR2) XP_024303325.1:p.Arg974Ter
XM_024447558.1:c.1942C>T (NPR2) XP_024303326.1:p.Arg648Ter
XM_024447559.1:c.1525C>T (NPR2) XP_024303327.1:p.Arg509Ter
XM_024447560.1:c.1516C>T (NPR2) XP_024303328.1:p.Arg506Ter
XM_024447561.1:c.1357C>T (NPR2) XP_024303329.1:p.Arg453Ter
XR_002956772.1:n.1313-251G>A (SPAG8)
NM_001366760.2:c.1201-251G>A (SPAG8) NP_001353689.1:n.1201-251G>A
NM_003995.4:c.2761C>T (NPR2) MANE Select NP_003986.2:p.Arg921Ter
NM_172312.2:c.1373-251G>A (SPAG8) NP_758516.1:n.1373-251G>A
NR_159431.2:n.1303-251G>A (SPAG8)
NM_001378923.1:c.2770C>T (NPR2) NP_001365852.1:p.Arg924Ter