Canonical Allele Identifier: CA250692
Gene: NPR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17784
ClinVar RCV Id: RCV000019362
dbSNP Id: rs28931581

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35792502C>A , CM000671.2:g.35792502C>A GRCh38
NC_000009.11:g.35792499C>A , CM000671.1:g.35792499C>A GRCh37
NC_000009.10:g.35782499C>A NCBI36
NG_009249.1:g.5094C>A

Transcript Alleles

HGVS Amino-acid change
NM_003995.3:n.94C>A VV NP_003986.2:p.Pro32Thr
XM_005251478.3:c.94C>A XP_005251535.1:p.Pro32Thr
XM_005251479.3:c.-115+2162C>A XP_005251536.1:p.=
XM_006716778.2:c.94C>A XP_006716841.1:p.Pro32Thr
XM_011517889.1:c.-115+2162C>A XP_011516191.1:p.=
XM_011517890.1:c.-115+2162C>A XP_011516192.1:p.=
XM_011517891.1:c.-115+2162C>A XP_011516193.1:p.=
XM_011517892.1:c.-115+2162C>A XP_011516194.1:p.=
XM_011517893.1:c.-115+2162C>A XP_011516195.1:p.=
XM_011517894.1:c.-115+2162C>A XP_011516196.1:p.=
XM_024447556.1:c.94C>A XP_024303324.1:p.Pro32Thr
XM_024447557.1:c.94C>A XP_024303325.1:p.Pro32Thr
XM_024447558.1:c.-115+2162C>A XP_024303326.1:p.=
ENST00000342694.6:c.94C>A ENSP00000341083.2:p.Pro32Thr
ENST00000464810.5:n.94C>A