Canonical Allele Identifier: CA5051939
Community Standard Title: NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35806202C>T , CM000671.2:g.35806202C>T GRCh38
NC_000009.11:g.35806199C>T , CM000671.1:g.35806199C>T GRCh37
NC_000009.10:g.35796199C>T NCBI36
NG_009249.1:g.18794C>T
NG_047141.1:g.11071G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2341C>T MANE Select NP_003986.2:p.Gln781Ter
ENST00000342694.7:c.2341C>T MANE Select ENSP00000341083.2:p.Gln781Ter
NM_001378923.1:c.2350C>T NP_001365852.1:p.Gln784Ter
NM_003995.3:c.2341C>T NP_003986.2:p.Gln781Ter
ENST00000342694.6:c.2341C>T ENSP00000341083.2:p.Gln781Ter
ENST00000421267.5:c.381C>T
ENST00000421267.6:c.381C>T
ENST00000447210.5:c.118C>T ENSP00000393029.1:p.Gln40Ter
ENST00000448821.6:c.2341C>T ENSP00000402902.2:p.Gln781Ter
ENST00000464810.5:n.2341C>T
ENST00000685871.1:c.2269C>T ENSP00000509964.1:p.Gln757Ter
ENST00000686159.1:n.2380C>T
ENST00000686486.1:n.1511C>T
ENST00000687302.1:n.2455C>T
ENST00000687357.1:c.2194C>T ENSP00000509549.1:p.Gln732Ter
ENST00000687625.1:n.1496C>T
ENST00000687787.1:c.2500C>T ENSP00000509440.1:p.Gln834Ter
ENST00000688201.1:n.2298C>T
ENST00000688226.1:n.2273C>T
ENST00000688869.1:n.2647C>T
ENST00000689788.1:c.2135C>T ENSP00000508973.1:n.2135C>T
ENST00000689898.1:c.2198C>T ENSP00000509651.1:n.2198C>T
ENST00000690070.1:c.2425C>T ENSP00000509654.1:p.Gln809Ter
ENST00000690267.1:c.2130C>T ENSP00000510432.1:n.2130C>T
ENST00000690552.1:n.2202C>T
ENST00000691138.1:n.2130C>T
ENST00000691969.1:c.1841C>T ENSP00000510244.1:n.1841C>T
ENST00000692232.1:n.3656C>T
ENST00000692233.1:c.2205C>T ENSP00000509698.1:n.2205C>T
ENST00000692380.1:n.1496C>T
ENST00000692447.1:n.3457C>T
ENST00000693094.1:c.2341C>T ENSP00000510161.1:p.Gln781Ter
XM_005251478.3:c.2350C>T XP_005251535.1:p.Gln784Ter
XM_005251479.3:c.1363C>T XP_005251536.1:p.Gln455Ter
XM_006716778.2:c.2278C>T XP_006716841.1:p.Gln760Ter
XM_011517889.1:c.1363C>T XP_011516191.1:p.Gln455Ter
XM_011517890.1:c.1363C>T XP_011516192.1:p.Gln455Ter
XM_011517891.1:c.1363C>T XP_011516193.1:p.Gln455Ter
XM_011517892.1:c.1363C>T XP_011516194.1:p.Gln455Ter
XM_011517893.1:c.1363C>T XP_011516195.1:p.Gln455Ter
XM_011517894.1:c.1363C>T XP_011516196.1:p.Gln455Ter
XM_011517895.1:c.946C>T XP_011516197.1:p.Gln316Ter
XM_024447556.1:c.2509C>T XP_024303324.1:p.Gln837Ter
XM_024447557.1:c.2500C>T XP_024303325.1:p.Gln834Ter
XM_024447558.1:c.1522C>T XP_024303326.1:p.Gln508Ter
XM_024447559.1:c.1105C>T XP_024303327.1:p.Gln369Ter
XM_024447560.1:c.1096C>T XP_024303328.1:p.Gln366Ter
XM_024447561.1:c.937C>T XP_024303329.1:p.Gln313Ter