Canonical Allele Identifier: CA373371117
Gene: NPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35800771G>C , CM000671.2:g.35800771G>C GRCh38
NC_000009.11:g.35800768G>C , CM000671.1:g.35800768G>C GRCh37
NC_000009.10:g.35790768G>C NCBI36
NG_009249.1:g.13363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448821.6:c.1281G>C ENSP00000402902.2:p.Trp427Cys
ENST00000685871.1:c.1281G>C ENSP00000509964.1:p.Trp427Cys
ENST00000686159.1:n.1320G>C
ENST00000686486.1:n.289G>C
ENST00000687302.1:n.1367G>C
ENST00000687357.1:c.1281G>C ENSP00000509549.1:p.Trp427Cys
ENST00000687625.1:n.436G>C
ENST00000687787.1:c.1281G>C ENSP00000509440.1:p.Trp427Cys
ENST00000688201.1:n.1313G>C
ENST00000688226.1:n.1213G>C
ENST00000688869.1:n.1587G>C
ENST00000689788.1:c.1075G>C ENSP00000508973.1:n.1075G>C
ENST00000689898.1:c.1281G>C ENSP00000509651.1:p.Trp427Cys
ENST00000690070.1:c.1281G>C ENSP00000509654.1:p.Trp427Cys
ENST00000690267.1:c.1145G>C ENSP00000510432.1:n.1145G>C
ENST00000690552.1:n.1142G>C
ENST00000691138.1:n.1142G>C
ENST00000691969.1:c.856G>C ENSP00000510244.1:n.856G>C
ENST00000692232.1:n.2437G>C
ENST00000692233.1:c.1145G>C ENSP00000509698.1:n.1145G>C
ENST00000692380.1:n.436G>C
ENST00000692447.1:n.2393G>C
ENST00000693094.1:c.1281G>C ENSP00000510161.1:p.Trp427Cys
ENST00000342694.7:c.1281G>C MANE Select ENSP00000341083.2:p.Trp427Cys
ENST00000342694.6:c.1281G>C ENSP00000341083.2:p.Trp427Cys
ENST00000464810.5:n.1281G>C
NM_003995.3:c.1281G>C NP_003986.2:p.Trp427Cys
XM_005251478.3:c.1281G>C XP_005251535.1:p.Trp427Cys
XM_005251479.3:c.294G>C XP_005251536.1:p.Trp98Cys
XM_006716778.2:c.1281G>C XP_006716841.1:p.Trp427Cys
XM_011517889.1:c.294G>C XP_011516191.1:p.Trp98Cys
XM_011517890.1:c.294G>C XP_011516192.1:p.Trp98Cys
XM_011517891.1:c.294G>C XP_011516193.1:p.Trp98Cys
XM_011517892.1:c.294G>C XP_011516194.1:p.Trp98Cys
XM_011517893.1:c.294G>C XP_011516195.1:p.Trp98Cys
XM_011517894.1:c.294G>C XP_011516196.1:p.Trp98Cys
XM_011517895.1:c.-128G>C XP_011516197.1:n.-128G>C
XM_024447556.1:c.1281G>C XP_024303324.1:p.Trp427Cys
XM_024447557.1:c.1281G>C XP_024303325.1:p.Trp427Cys
XM_024447558.1:c.294G>C XP_024303326.1:p.Trp98Cys
XM_024447559.1:c.-128G>C XP_024303327.1:n.-128G>C
XM_024447560.1:c.-128G>C XP_024303328.1:n.-128G>C
XM_024447561.1:c.-128G>C XP_024303329.1:n.-128G>C
NM_003995.4:c.1281G>C MANE Select NP_003986.2:p.Trp427Cys
NM_001378923.1:c.1281G>C NP_001365852.1:p.Trp427Cys