Canonical Allele Identifier: CA373372667
Community Standard Title: NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35801717C>G , CM000671.2:g.35801717C>G GRCh38
NC_000009.11:g.35801714C>G , CM000671.1:g.35801714C>G GRCh37
NC_000009.10:g.35791714C>G NCBI36
NG_009249.1:g.14309C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.1511C>G MANE Select NP_003986.2:p.Ser504Ter
ENST00000342694.7:c.1511C>G MANE Select ENSP00000341083.2:p.Ser504Ter
NM_001378923.1:c.1520C>G NP_001365852.1:p.Ser507Ter
NM_003995.3:c.1511C>G NP_003986.2:p.Ser504Ter
ENST00000342694.6:c.1511C>G ENSP00000341083.2:p.Ser504Ter
ENST00000448821.6:c.1511C>G ENSP00000402902.2:p.Ser504Ter
ENST00000464810.5:n.1511C>G
ENST00000685871.1:c.1511C>G ENSP00000509964.1:p.Ser504Ter
ENST00000686159.1:n.1550C>G
ENST00000686486.1:n.519C>G
ENST00000687302.1:n.1597C>G
ENST00000687357.1:c.1511C>G ENSP00000509549.1:p.Ser504Ter
ENST00000687625.1:n.666C>G
ENST00000687787.1:c.1511C>G ENSP00000509440.1:p.Ser504Ter
ENST00000688201.1:n.1543C>G
ENST00000688226.1:n.1443C>G
ENST00000688869.1:n.1817C>G
ENST00000689788.1:c.1305C>G ENSP00000508973.1:n.1305C>G
ENST00000689898.1:c.1515C>G ENSP00000509651.1:n.1515C>G
ENST00000690070.1:c.1511C>G ENSP00000509654.1:p.Ser504Ter
ENST00000690267.1:c.1375C>G ENSP00000510432.1:n.1375C>G
ENST00000690552.1:n.1372C>G
ENST00000691138.1:n.1372C>G
ENST00000691969.1:c.1086C>G ENSP00000510244.1:n.1086C>G
ENST00000692232.1:n.2667C>G
ENST00000692233.1:c.1375C>G ENSP00000509698.1:n.1375C>G
ENST00000692380.1:n.666C>G
ENST00000692447.1:n.2627C>G
ENST00000693094.1:c.1511C>G ENSP00000510161.1:p.Ser504Ter
XM_005251478.3:c.1520C>G XP_005251535.1:p.Ser507Ter
XM_005251479.3:c.533C>G XP_005251536.1:p.Ser178Ter
XM_006716778.2:c.1520C>G XP_006716841.1:p.Ser507Ter
XM_011517889.1:c.533C>G XP_011516191.1:p.Ser178Ter
XM_011517890.1:c.533C>G XP_011516192.1:p.Ser178Ter
XM_011517891.1:c.533C>G XP_011516193.1:p.Ser178Ter
XM_011517892.1:c.533C>G XP_011516194.1:p.Ser178Ter
XM_011517893.1:c.533C>G XP_011516195.1:p.Ser178Ter
XM_011517894.1:c.533C>G XP_011516196.1:p.Ser178Ter
XM_011517895.1:c.116C>G XP_011516197.1:p.Ser39Ter
XM_024447556.1:c.1520C>G XP_024303324.1:p.Ser507Ter
XM_024447557.1:c.1511C>G XP_024303325.1:p.Ser504Ter
XM_024447558.1:c.533C>G XP_024303326.1:p.Ser178Ter
XM_024447559.1:c.116C>G XP_024303327.1:p.Ser39Ter
XM_024447560.1:c.107C>G XP_024303328.1:p.Ser36Ter
XM_024447561.1:c.107C>G XP_024303329.1:p.Ser36Ter