Canonical Allele Identifier: CA373376287
Community Standard Title: NM_003995.4(NPR2):c.1924C>T (p.His642Tyr)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35805547C>T , CM000671.2:g.35805547C>T GRCh38
NC_000009.11:g.35805544C>T , CM000671.1:g.35805544C>T GRCh37
NC_000009.10:g.35795544C>T NCBI36
NG_009249.1:g.18139C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.1924C>T MANE Select NP_003986.2:p.His642Tyr
ENST00000342694.7:c.1924C>T MANE Select ENSP00000341083.2:p.His642Tyr
NM_001378923.1:c.1933C>T NP_001365852.1:p.His645Tyr
NM_003995.3:c.1924C>T NP_003986.2:p.His642Tyr
ENST00000342694.6:c.1924C>T ENSP00000341083.2:p.His642Tyr
ENST00000421267.5:c.18C>T
ENST00000421267.6:c.18C>T
ENST00000448821.6:c.1924C>T ENSP00000402902.2:p.His642Tyr
ENST00000464810.5:n.1924C>T
ENST00000685871.1:c.1852C>T ENSP00000509964.1:p.His618Tyr
ENST00000686159.1:n.1963C>T
ENST00000686486.1:n.1094C>T
ENST00000687302.1:n.2038C>T
ENST00000687357.1:c.1777C>T ENSP00000509549.1:p.His593Tyr
ENST00000687625.1:n.1079C>T
ENST00000687787.1:c.1924C>T ENSP00000509440.1:p.His642Tyr
ENST00000688201.1:n.1881C>T
ENST00000688226.1:n.1856C>T
ENST00000688869.1:n.2230C>T
ENST00000689788.1:c.1718C>T ENSP00000508973.1:n.1718C>T
ENST00000689898.1:c.1781C>T ENSP00000509651.1:n.1781C>T
ENST00000690070.1:c.1849C>T ENSP00000509654.1:p.His617Tyr
ENST00000690267.1:c.1713C>T ENSP00000510432.1:n.1713C>T
ENST00000690552.1:n.1785C>T
ENST00000691138.1:n.1713C>T
ENST00000691969.1:c.1424C>T ENSP00000510244.1:n.1424C>T
ENST00000692232.1:n.3080C>T
ENST00000692233.1:c.1788C>T ENSP00000509698.1:n.1788C>T
ENST00000692380.1:n.1079C>T
ENST00000692447.1:n.3040C>T
ENST00000693094.1:c.1924C>T ENSP00000510161.1:p.His642Tyr
XM_005251478.3:c.1933C>T XP_005251535.1:p.His645Tyr
XM_005251479.3:c.946C>T XP_005251536.1:p.His316Tyr
XM_006716778.2:c.1861C>T XP_006716841.1:p.His621Tyr
XM_011517889.1:c.946C>T XP_011516191.1:p.His316Tyr
XM_011517890.1:c.946C>T XP_011516192.1:p.His316Tyr
XM_011517891.1:c.946C>T XP_011516193.1:p.His316Tyr
XM_011517892.1:c.946C>T XP_011516194.1:p.His316Tyr
XM_011517893.1:c.946C>T XP_011516195.1:p.His316Tyr
XM_011517894.1:c.946C>T XP_011516196.1:p.His316Tyr
XM_011517895.1:c.529C>T XP_011516197.1:p.His177Tyr
XM_024447556.1:c.1933C>T XP_024303324.1:p.His645Tyr
XM_024447557.1:c.1924C>T XP_024303325.1:p.His642Tyr
XM_024447558.1:c.946C>T XP_024303326.1:p.His316Tyr
XM_024447559.1:c.529C>T XP_024303327.1:p.His177Tyr
XM_024447560.1:c.520C>T XP_024303328.1:p.His174Tyr
XM_024447561.1:c.520C>T XP_024303329.1:p.His174Tyr