Canonical Allele Identifier: CA5051405
Gene: NPR2 HGNC NCBI

Linked Data

dbSNP Id: rs777192647
gnomAD v2: 9-35792507-C-T
gnomAD v3: 9-35792510-C-T
gnomAD v4: 9-35792510-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35792510C>T , CM000671.2:g.35792510C>T GRCh38
NC_000009.11:g.35792507C>T , CM000671.1:g.35792507C>T GRCh37
NC_000009.10:g.35782507C>T NCBI36
NG_009249.1:g.5102C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000448821.6:c.102C>T ENSP00000402902.2:p.His34=
ENST00000685871.1:c.102C>T ENSP00000509964.1:p.His34=
ENST00000686159.1:n.141C>T
ENST00000687357.1:c.102C>T ENSP00000509549.1:p.His34=
ENST00000687625.1:n.164+1344C>T
ENST00000687787.1:c.102C>T ENSP00000509440.1:p.His34=
ENST00000688201.1:n.134C>T
ENST00000688869.1:n.183C>T
ENST00000689788.1:c.102C>T ENSP00000508973.1:p.His34=
ENST00000689898.1:c.102C>T ENSP00000509651.1:p.His34=
ENST00000690070.1:c.102C>T ENSP00000509654.1:p.His34=
ENST00000690267.1:c.102C>T ENSP00000510432.1:p.His34=
ENST00000691969.1:c.102C>T ENSP00000510244.1:p.His34=
ENST00000692233.1:c.102C>T ENSP00000509698.1:p.His34=
ENST00000692380.1:n.164+1344C>T
ENST00000692447.1:n.102C>T
ENST00000693094.1:c.102C>T ENSP00000510161.1:p.His34=
ENST00000342694.7:c.102C>T MANE Select ENSP00000341083.2:p.His34=
ENST00000342694.6:c.102C>T ENSP00000341083.2:p.His34=
ENST00000464810.5:n.102C>T
NM_003995.3:c.102C>T NP_003986.2:p.His34=
XM_005251478.3:c.102C>T XP_005251535.1:p.His34=
XM_005251479.3:c.-115+2170C>T XP_005251536.1:n.-115+2170C>T
XM_006716778.2:c.102C>T XP_006716841.1:p.His34=
XM_011517889.1:c.-115+2170C>T XP_011516191.1:n.-115+2170C>T
XM_011517890.1:c.-115+2170C>T XP_011516192.1:n.-115+2170C>T
XM_011517891.1:c.-115+2170C>T XP_011516193.1:n.-115+2170C>T
XM_011517892.1:c.-115+2170C>T XP_011516194.1:n.-115+2170C>T
XM_011517893.1:c.-115+2170C>T XP_011516195.1:n.-115+2170C>T
XM_011517894.1:c.-115+2170C>T XP_011516196.1:n.-115+2170C>T
XM_024447556.1:c.102C>T XP_024303324.1:p.His34=
XM_024447557.1:c.102C>T XP_024303325.1:p.His34=
XM_024447558.1:c.-115+2170C>T XP_024303326.1:n.-115+2170C>T
NM_003995.4:c.102C>T MANE Select NP_003986.2:p.His34=
NM_001378923.1:c.102C>T NP_001365852.1:p.His34=