Canonical Allele Identifier: CA373378404
Community Standard Title: NM_003995.4(NPR2):c.2116G>C (p.Asp706His)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35805898G>C , CM000671.2:g.35805898G>C GRCh38
NC_000009.11:g.35805895G>C , CM000671.1:g.35805895G>C GRCh37
NC_000009.10:g.35795895G>C NCBI36
NG_009249.1:g.18490G>C
NG_047141.1:g.11375C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2116G>C MANE Select NP_003986.2:p.Asp706His
ENST00000342694.7:c.2116G>C MANE Select ENSP00000341083.2:p.Asp706His
NM_001378923.1:c.2125G>C NP_001365852.1:p.Asp709His
NM_003995.3:c.2116G>C NP_003986.2:p.Asp706His
ENST00000342694.6:c.2116G>C ENSP00000341083.2:p.Asp706His
ENST00000421267.5:c.156G>C
ENST00000421267.6:c.156G>C
ENST00000448821.6:c.2116G>C ENSP00000402902.2:p.Asp706His
ENST00000464810.5:n.2116G>C
ENST00000685871.1:c.2044G>C ENSP00000509964.1:p.Asp682His
ENST00000686159.1:n.2155G>C
ENST00000686486.1:n.1286G>C
ENST00000687302.1:n.2230G>C
ENST00000687357.1:c.1969G>C ENSP00000509549.1:p.Asp657His
ENST00000687625.1:n.1271G>C
ENST00000687787.1:c.2275G>C ENSP00000509440.1:p.Asp759His
ENST00000688201.1:n.2073G>C
ENST00000688226.1:n.2048G>C
ENST00000688869.1:n.2422G>C
ENST00000689788.1:c.1910G>C ENSP00000508973.1:n.1910G>C
ENST00000689898.1:c.1973G>C ENSP00000509651.1:n.1973G>C
ENST00000690070.1:c.2200G>C ENSP00000509654.1:p.Asp734His
ENST00000690267.1:c.1905G>C ENSP00000510432.1:n.1905G>C
ENST00000690552.1:n.1977G>C
ENST00000691138.1:n.1905G>C
ENST00000691969.1:c.1616G>C ENSP00000510244.1:n.1616G>C
ENST00000692232.1:n.3431G>C
ENST00000692233.1:c.1980G>C ENSP00000509698.1:n.1980G>C
ENST00000692380.1:n.1271G>C
ENST00000692447.1:n.3232G>C
ENST00000693094.1:c.2116G>C ENSP00000510161.1:p.Asp706His
XM_005251478.3:c.2125G>C XP_005251535.1:p.Asp709His
XM_005251479.3:c.1138G>C XP_005251536.1:p.Asp380His
XM_006716778.2:c.2053G>C XP_006716841.1:p.Asp685His
XM_011517889.1:c.1138G>C XP_011516191.1:p.Asp380His
XM_011517890.1:c.1138G>C XP_011516192.1:p.Asp380His
XM_011517891.1:c.1138G>C XP_011516193.1:p.Asp380His
XM_011517892.1:c.1138G>C XP_011516194.1:p.Asp380His
XM_011517893.1:c.1138G>C XP_011516195.1:p.Asp380His
XM_011517894.1:c.1138G>C XP_011516196.1:p.Asp380His
XM_011517895.1:c.721G>C XP_011516197.1:p.Asp241His
XM_024447556.1:c.2284G>C XP_024303324.1:p.Asp762His
XM_024447557.1:c.2275G>C XP_024303325.1:p.Asp759His
XM_024447558.1:c.1297G>C XP_024303326.1:p.Asp433His
XM_024447559.1:c.880G>C XP_024303327.1:p.Asp294His
XM_024447560.1:c.871G>C XP_024303328.1:p.Asp291His
XM_024447561.1:c.712G>C XP_024303329.1:p.Asp238His