Canonical Allele Identifier: CA373371473
Gene: NPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1269882442
gnomAD v2: 9-35801085-C-A
gnomAD v4: 9-35801088-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35801088C>A , CM000671.2:g.35801088C>A GRCh38
NC_000009.11:g.35801085C>A , CM000671.1:g.35801085C>A GRCh37
NC_000009.10:g.35791085C>A NCBI36
NG_009249.1:g.13680C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448821.6:c.1370C>A ENSP00000402902.2:p.Ala457Glu
ENST00000685871.1:c.1370C>A ENSP00000509964.1:p.Ala457Glu
ENST00000686159.1:n.1409C>A
ENST00000686486.1:n.378C>A
ENST00000687302.1:n.1456C>A
ENST00000687357.1:c.1370C>A ENSP00000509549.1:p.Ala457Glu
ENST00000687625.1:n.525C>A
ENST00000687787.1:c.1370C>A ENSP00000509440.1:p.Ala457Glu
ENST00000688201.1:n.1402C>A
ENST00000688226.1:n.1302C>A
ENST00000688869.1:n.1676C>A
ENST00000689788.1:c.1164C>A ENSP00000508973.1:n.1164C>A
ENST00000689898.1:c.1374C>A ENSP00000509651.1:p.Gly458=
ENST00000690070.1:c.1370C>A ENSP00000509654.1:p.Ala457Glu
ENST00000690267.1:c.1234C>A ENSP00000510432.1:n.1234C>A
ENST00000690552.1:n.1231C>A
ENST00000691138.1:n.1231C>A
ENST00000691969.1:c.945C>A ENSP00000510244.1:n.945C>A
ENST00000692232.1:n.2526C>A
ENST00000692233.1:c.1234C>A ENSP00000509698.1:n.1234C>A
ENST00000692380.1:n.525C>A
ENST00000692447.1:n.2486C>A
ENST00000693094.1:c.1370C>A ENSP00000510161.1:p.Ala457Glu
ENST00000342694.7:c.1370C>A MANE Select ENSP00000341083.2:p.Ala457Glu
ENST00000342694.6:c.1370C>A ENSP00000341083.2:p.Ala457Glu
ENST00000464810.5:n.1370C>A
NM_003995.3:c.1370C>A NP_003986.2:p.Ala457Glu
XM_005251478.3:c.1370C>A XP_005251535.1:p.Ala457Glu
XM_005251479.3:c.383C>A XP_005251536.1:p.Ala128Glu
XM_006716778.2:c.1370C>A XP_006716841.1:p.Ala457Glu
XM_011517889.1:c.383C>A XP_011516191.1:p.Ala128Glu
XM_011517890.1:c.383C>A XP_011516192.1:p.Ala128Glu
XM_011517891.1:c.383C>A XP_011516193.1:p.Ala128Glu
XM_011517892.1:c.383C>A XP_011516194.1:p.Ala128Glu
XM_011517893.1:c.383C>A XP_011516195.1:p.Ala128Glu
XM_011517894.1:c.383C>A XP_011516196.1:p.Ala128Glu
XM_011517895.1:c.-35C>A XP_011516197.1:n.-35C>A
XM_024447556.1:c.1370C>A XP_024303324.1:p.Ala457Glu
XM_024447557.1:c.1370C>A XP_024303325.1:p.Ala457Glu
XM_024447558.1:c.383C>A XP_024303326.1:p.Ala128Glu
XM_024447559.1:c.-35C>A XP_024303327.1:n.-35C>A
XM_024447560.1:c.-35C>A XP_024303328.1:n.-35C>A
XM_024447561.1:c.-35C>A XP_024303329.1:n.-35C>A
NM_003995.4:c.1370C>A MANE Select NP_003986.2:p.Ala457Glu
NM_001378923.1:c.1370C>A NP_001365852.1:p.Ala457Glu