Canonical Allele Identifier: CA2573144630
Community Standard Title: NM_003995.4(NPR2):c.507del (p.Tyr170ThrfsTer?)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35792915del , CM000671.2:g.35792915del GRCh38
NC_000009.11:g.35792912del , CM000671.1:g.35792912del GRCh37
NC_000009.10:g.35782912del NCBI36
NG_009249.1:g.5507del

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.507del MANE Select NP_003986.2:p.Tyr170ThrfsTer?
ENST00000342694.7:c.507del MANE Select ENSP00000341083.2:p.Tyr170ThrfsTer?
NM_001378923.1:c.507del NP_001365852.1:p.Tyr170ThrfsTer?
NM_003995.3:c.507del NP_003986.2:p.Tyr170ThrfsTer?
ENST00000342694.6:c.507del ENSP00000341083.2:p.Tyr170ThrfsTer?
ENST00000448821.6:c.507del ENSP00000402902.2:p.Tyr170ThrfsTer?
ENST00000464810.5:n.507del
ENST00000685871.1:c.507del ENSP00000509964.1:p.Tyr170ThrfsTer?
ENST00000686159.1:n.546del
ENST00000687302.1:n.368del
ENST00000687357.1:c.507del ENSP00000509549.1:p.Tyr170ThrfsTer?
ENST00000687625.1:n.164+1749del
ENST00000687787.1:c.507del ENSP00000509440.1:p.Tyr170ThrfsTer?
ENST00000688201.1:n.539del
ENST00000688869.1:n.588del
ENST00000689788.1:c.507del ENSP00000508973.1:p.Tyr170ThrfsTer?
ENST00000689898.1:c.507del ENSP00000509651.1:p.Tyr170ThrfsTer?
ENST00000690070.1:c.507del ENSP00000509654.1:p.Tyr170ThrfsTer?
ENST00000690267.1:c.507del ENSP00000510432.1:p.Tyr170ThrfsTer?
ENST00000690552.1:n.368del
ENST00000691138.1:n.368del
ENST00000691969.1:c.448+59del ENSP00000510244.1:n.448+59del
ENST00000692233.1:c.507del ENSP00000509698.1:p.Tyr170ThrfsTer?
ENST00000692380.1:n.164+1749del
ENST00000692447.1:n.507del
ENST00000693094.1:c.507del ENSP00000510161.1:p.Tyr170ThrfsTer?
XM_005251478.3:c.507del XP_005251535.1:p.Tyr170ThrfsTer?
XM_005251479.3:c.-115+2575del XP_005251536.1:n.-115+2575del
XM_006716778.2:c.507del XP_006716841.1:p.Tyr170ThrfsTer?
XM_011517889.1:c.-115+2575del XP_011516191.1:n.-115+2575del
XM_011517890.1:c.-115+2575del XP_011516192.1:n.-115+2575del
XM_011517891.1:c.-115+2575del XP_011516193.1:n.-115+2575del
XM_011517892.1:c.-115+2575del XP_011516194.1:n.-115+2575del
XM_011517893.1:c.-115+2575del XP_011516195.1:n.-115+2575del
XM_011517894.1:c.-115+2575del XP_011516196.1:n.-115+2575del
XM_024447556.1:c.507del XP_024303324.1:p.Tyr170ThrfsTer?
XM_024447557.1:c.507del XP_024303325.1:p.Tyr170ThrfsTer?
XM_024447558.1:c.-115+2575del XP_024303326.1:n.-115+2575del