Canonical Allele Identifier: CA5051920
Community Standard Title: NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35806106C>T , CM000671.2:g.35806106C>T GRCh38
NC_000009.11:g.35806103C>T , CM000671.1:g.35806103C>T GRCh37
NC_000009.10:g.35796103C>T NCBI36
NG_009249.1:g.18698C>T
NG_047141.1:g.11167G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2245C>T MANE Select NP_003986.2:p.Arg749Trp
ENST00000342694.7:c.2245C>T MANE Select ENSP00000341083.2:p.Arg749Trp
NM_001378923.1:c.2254C>T NP_001365852.1:p.Arg752Trp
NM_003995.3:c.2245C>T NP_003986.2:p.Arg749Trp
ENST00000342694.6:c.2245C>T ENSP00000341083.2:p.Arg749Trp
ENST00000421267.5:c.285C>T
ENST00000421267.6:c.285C>T
ENST00000447210.5:c.22C>T ENSP00000393029.1:p.Arg8Trp
ENST00000448821.6:c.2245C>T ENSP00000402902.2:p.Arg749Trp
ENST00000464810.5:n.2245C>T
ENST00000685871.1:c.2173C>T ENSP00000509964.1:p.Arg725Trp
ENST00000686159.1:n.2284C>T
ENST00000686486.1:n.1415C>T
ENST00000687302.1:n.2359C>T
ENST00000687357.1:c.2098C>T ENSP00000509549.1:p.Arg700Trp
ENST00000687625.1:n.1400C>T
ENST00000687787.1:c.2404C>T ENSP00000509440.1:p.Arg802Trp
ENST00000688201.1:n.2202C>T
ENST00000688226.1:n.2177C>T
ENST00000688869.1:n.2551C>T
ENST00000689788.1:c.2039C>T ENSP00000508973.1:n.2039C>T
ENST00000689898.1:c.2102C>T ENSP00000509651.1:n.2102C>T
ENST00000690070.1:c.2329C>T ENSP00000509654.1:p.Arg777Trp
ENST00000690267.1:c.2034C>T ENSP00000510432.1:n.2034C>T
ENST00000690552.1:n.2106C>T
ENST00000691138.1:n.2034C>T
ENST00000691969.1:c.1745C>T ENSP00000510244.1:n.1745C>T
ENST00000692232.1:n.3560C>T
ENST00000692233.1:c.2109C>T ENSP00000509698.1:n.2109C>T
ENST00000692380.1:n.1400C>T
ENST00000692447.1:n.3361C>T
ENST00000693094.1:c.2245C>T ENSP00000510161.1:p.Arg749Trp
XM_005251478.3:c.2254C>T XP_005251535.1:p.Arg752Trp
XM_005251479.3:c.1267C>T XP_005251536.1:p.Arg423Trp
XM_006716778.2:c.2182C>T XP_006716841.1:p.Arg728Trp
XM_011517889.1:c.1267C>T XP_011516191.1:p.Arg423Trp
XM_011517890.1:c.1267C>T XP_011516192.1:p.Arg423Trp
XM_011517891.1:c.1267C>T XP_011516193.1:p.Arg423Trp
XM_011517892.1:c.1267C>T XP_011516194.1:p.Arg423Trp
XM_011517893.1:c.1267C>T XP_011516195.1:p.Arg423Trp
XM_011517894.1:c.1267C>T XP_011516196.1:p.Arg423Trp
XM_011517895.1:c.850C>T XP_011516197.1:p.Arg284Trp
XM_024447556.1:c.2413C>T XP_024303324.1:p.Arg805Trp
XM_024447557.1:c.2404C>T XP_024303325.1:p.Arg802Trp
XM_024447558.1:c.1426C>T XP_024303326.1:p.Arg476Trp
XM_024447559.1:c.1009C>T XP_024303327.1:p.Arg337Trp
XM_024447560.1:c.1000C>T XP_024303328.1:p.Arg334Trp
XM_024447561.1:c.841C>T XP_024303329.1:p.Arg281Trp