Canonical Allele Identifier: CA5051943

Gene: NPR2

Linked Data

• ClinVar Variation Id: 2102689
• ClinVar RCV Id: RCV003019640
• dbSNP Id: rs544587520
• ExAC: 9:35806202 A / G
• gnomAD v2: 9-35806202-A-G
• gnomAD v3: 9-35806205-A-G
• gnomAD v4: 9-35806205-A-G
• MyVariant Identifiers: chr9:g.35806202A>G (hg19) ; chr9:g.35806205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35806205A>G , CM000671.2:g.35806205A>G	GRCh38
NC_000009.11:g.35806202A>G , CM000671.1:g.35806202A>G	GRCh37
NC_000009.10:g.35796202A>G	NCBI36
NG_009249.1:g.18797A>G
NG_047141.1:g.11068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421267.6:c.384A>G
ENST00000448821.6:c.2344A>G	ENSP00000402902.2:p.Ile782Val
ENST00000685871.1:c.2272A>G	ENSP00000509964.1:p.Ile758Val
ENST00000686159.1:n.2383A>G
ENST00000686486.1:n.1514A>G
ENST00000687302.1:n.2458A>G
ENST00000687357.1:c.2197A>G	ENSP00000509549.1:p.Ile733Val
ENST00000687625.1:n.1499A>G
ENST00000687787.1:c.2503A>G	ENSP00000509440.1:p.Ile835Val
ENST00000688201.1:n.2301A>G
ENST00000688226.1:n.2276A>G
ENST00000688869.1:n.2650A>G
ENST00000689788.1:c.2138A>G	ENSP00000508973.1:n.2138A>G
ENST00000689898.1:c.2201A>G	ENSP00000509651.1:n.2201A>G
ENST00000690070.1:c.2428A>G	ENSP00000509654.1:p.Ile810Val
ENST00000690267.1:c.2133A>G	ENSP00000510432.1:n.2133A>G
ENST00000690552.1:n.2205A>G
ENST00000691138.1:n.2133A>G
ENST00000691969.1:c.1844A>G	ENSP00000510244.1:n.1844A>G
ENST00000692232.1:n.3659A>G
ENST00000692233.1:c.2208A>G	ENSP00000509698.1:n.2208A>G
ENST00000692380.1:n.1499A>G
ENST00000692447.1:n.3460A>G
ENST00000693094.1:c.2344A>G	ENSP00000510161.1:p.Ile782Val
ENST00000342694.7:c.2344A>G MANE Select	ENSP00000341083.2:p.Ile782Val
ENST00000342694.6:c.2344A>G	ENSP00000341083.2:p.Ile782Val
ENST00000421267.5:c.384A>G
ENST00000447210.5:c.121A>G	ENSP00000393029.1:p.Ile41Val
ENST00000464810.5:n.2344A>G
NM_003995.3:c.2344A>G	NP_003986.2:p.Ile782Val
XM_005251478.3:c.2353A>G	XP_005251535.1:p.Ile785Val
XM_005251479.3:c.1366A>G	XP_005251536.1:p.Ile456Val
XM_006716778.2:c.2281A>G	XP_006716841.1:p.Ile761Val
XM_011517889.1:c.1366A>G	XP_011516191.1:p.Ile456Val
XM_011517890.1:c.1366A>G	XP_011516192.1:p.Ile456Val
XM_011517891.1:c.1366A>G	XP_011516193.1:p.Ile456Val
XM_011517892.1:c.1366A>G	XP_011516194.1:p.Ile456Val
XM_011517893.1:c.1366A>G	XP_011516195.1:p.Ile456Val
XM_011517894.1:c.1366A>G	XP_011516196.1:p.Ile456Val
XM_011517895.1:c.949A>G	XP_011516197.1:p.Ile317Val
XM_024447556.1:c.2512A>G	XP_024303324.1:p.Ile838Val
XM_024447557.1:c.2503A>G	XP_024303325.1:p.Ile835Val
XM_024447558.1:c.1525A>G	XP_024303326.1:p.Ile509Val
XM_024447559.1:c.1108A>G	XP_024303327.1:p.Ile370Val
XM_024447560.1:c.1099A>G	XP_024303328.1:p.Ile367Val
XM_024447561.1:c.940A>G	XP_024303329.1:p.Ile314Val
NM_003995.4:c.2344A>G MANE Select	NP_003986.2:p.Ile782Val
NM_001378923.1:c.2353A>G	NP_001365852.1:p.Ile785Val