Canonical Allele Identifier: CA16044039
Gene: NPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375290
dbSNP Id: rs1057519324
gnomAD v3: 9-35801153-C-T
gnomAD v4: 9-35801153-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35801153C>T , CM000671.2:g.35801153C>T GRCh38
NC_000009.11:g.35801150C>T , CM000671.1:g.35801150C>T GRCh37
NC_000009.10:g.35791150C>T NCBI36
NG_009249.1:g.13745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000448821.6:c.1435C>T ENSP00000402902.2:p.Arg479Ter
ENST00000685871.1:c.1435C>T ENSP00000509964.1:p.Arg479Ter
ENST00000686159.1:n.1474C>T
ENST00000686486.1:n.443C>T
ENST00000687302.1:n.1521C>T
ENST00000687357.1:c.1435C>T ENSP00000509549.1:p.Arg479Ter
ENST00000687625.1:n.590C>T
ENST00000687787.1:c.1435C>T ENSP00000509440.1:p.Arg479Ter
ENST00000688201.1:n.1467C>T
ENST00000688226.1:n.1367C>T
ENST00000688869.1:n.1741C>T
ENST00000689788.1:c.1229C>T ENSP00000508973.1:n.1229C>T
ENST00000689898.1:c.1439C>T ENSP00000509651.1:p.Pro480Leu
ENST00000690070.1:c.1435C>T ENSP00000509654.1:p.Arg479Ter
ENST00000690267.1:c.1299C>T ENSP00000510432.1:n.1299C>T
ENST00000690552.1:n.1296C>T
ENST00000691138.1:n.1296C>T
ENST00000691969.1:c.1010C>T ENSP00000510244.1:n.1010C>T
ENST00000692232.1:n.2591C>T
ENST00000692233.1:c.1299C>T ENSP00000509698.1:n.1299C>T
ENST00000692380.1:n.590C>T
ENST00000692447.1:n.2551C>T
ENST00000693094.1:c.1435C>T ENSP00000510161.1:p.Arg479Ter
ENST00000342694.7:c.1435C>T MANE Select ENSP00000341083.2:p.Arg479Ter
ENST00000342694.6:c.1435C>T ENSP00000341083.2:p.Arg479Ter
ENST00000464810.5:n.1435C>T
NM_003995.3:c.1435C>T NP_003986.2:p.Arg479Ter
XM_005251478.3:c.1435C>T XP_005251535.1:p.Arg479Cys
XM_005251479.3:c.448C>T XP_005251536.1:p.Arg150Cys
XM_006716778.2:c.1435C>T XP_006716841.1:p.Arg479Cys
XM_011517889.1:c.448C>T XP_011516191.1:p.Arg150Cys
XM_011517890.1:c.448C>T XP_011516192.1:p.Arg150Cys
XM_011517891.1:c.448C>T XP_011516193.1:p.Arg150Cys
XM_011517892.1:c.448C>T XP_011516194.1:p.Arg150Cys
XM_011517893.1:c.448C>T XP_011516195.1:p.Arg150Cys
XM_011517894.1:c.448C>T XP_011516196.1:p.Arg150Cys
XM_011517895.1:c.31C>T XP_011516197.1:p.Arg11Cys
XM_024447556.1:c.1435C>T XP_024303324.1:p.Arg479Cys
XM_024447557.1:c.1435C>T XP_024303325.1:p.Arg479Ter
XM_024447558.1:c.448C>T XP_024303326.1:p.Arg150Cys
XM_024447559.1:c.31C>T XP_024303327.1:p.Arg11Cys
XM_024447560.1:c.31C>T XP_024303328.1:p.Arg11Ter
XM_024447561.1:c.31C>T XP_024303329.1:p.Arg11Ter
NM_003995.4:c.1435C>T MANE Select NP_003986.2:p.Arg479Ter
NM_001378923.1:c.1435C>T NP_001365852.1:p.Arg479Cys