Canonical Allele Identifier: CA5051945

Gene: NPR2

Linked Data

• ClinVar Variation Id: 913005
• ClinVar RCV Id: RCV001166432 ; RCV001338330
• dbSNP Id: rs771399009
• ExAC: 9:35806209 G / A
• gnomAD v2: 9-35806209-G-A
• gnomAD v3: 9-35806212-G-A
• gnomAD v4: 9-35806212-G-A
• MyVariant Identifiers: chr9:g.35806209G>A (hg19) ; chr9:g.35806212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35806212G>A , CM000671.2:g.35806212G>A	GRCh38
NC_000009.11:g.35806209G>A , CM000671.1:g.35806209G>A	GRCh37
NC_000009.10:g.35796209G>A	NCBI36
NG_009249.1:g.18804G>A
NG_047141.1:g.11061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421267.6:c.391G>A
ENST00000448821.6:c.2351G>A	ENSP00000402902.2:p.Gly784Asp
ENST00000685871.1:c.2279G>A	ENSP00000509964.1:p.Gly760Asp
ENST00000686159.1:n.2390G>A
ENST00000686486.1:n.1521G>A
ENST00000687302.1:n.2465G>A
ENST00000687357.1:c.2204G>A	ENSP00000509549.1:p.Gly735Asp
ENST00000687625.1:n.1506G>A
ENST00000687787.1:c.2510G>A	ENSP00000509440.1:p.Gly837Asp
ENST00000688201.1:n.2308G>A
ENST00000688226.1:n.2283G>A
ENST00000688869.1:n.2657G>A
ENST00000689788.1:c.2145G>A	ENSP00000508973.1:n.2145G>A
ENST00000689898.1:c.2208G>A	ENSP00000509651.1:n.2208G>A
ENST00000690070.1:c.2435G>A	ENSP00000509654.1:p.Gly812Asp
ENST00000690267.1:c.2140G>A	ENSP00000510432.1:n.2140G>A
ENST00000690552.1:n.2212G>A
ENST00000691138.1:n.2140G>A
ENST00000691969.1:c.1851G>A	ENSP00000510244.1:n.1851G>A
ENST00000692232.1:n.3666G>A
ENST00000692233.1:c.2215G>A	ENSP00000509698.1:n.2215G>A
ENST00000692380.1:n.1506G>A
ENST00000692447.1:n.3467G>A
ENST00000693094.1:c.2351G>A	ENSP00000510161.1:p.Gly784Asp
ENST00000342694.7:c.2351G>A MANE Select	ENSP00000341083.2:p.Gly784Asp
ENST00000342694.6:c.2351G>A	ENSP00000341083.2:p.Gly784Asp
ENST00000421267.5:c.391G>A
ENST00000447210.5:c.128G>A	ENSP00000393029.1:p.Gly43Asp
ENST00000464810.5:n.2351G>A
NM_003995.3:c.2351G>A	NP_003986.2:p.Gly784Asp
XM_005251478.3:c.2360G>A	XP_005251535.1:p.Gly787Asp
XM_005251479.3:c.1373G>A	XP_005251536.1:p.Gly458Asp
XM_006716778.2:c.2288G>A	XP_006716841.1:p.Gly763Asp
XM_011517889.1:c.1373G>A	XP_011516191.1:p.Gly458Asp
XM_011517890.1:c.1373G>A	XP_011516192.1:p.Gly458Asp
XM_011517891.1:c.1373G>A	XP_011516193.1:p.Gly458Asp
XM_011517892.1:c.1373G>A	XP_011516194.1:p.Gly458Asp
XM_011517893.1:c.1373G>A	XP_011516195.1:p.Gly458Asp
XM_011517894.1:c.1373G>A	XP_011516196.1:p.Gly458Asp
XM_011517895.1:c.956G>A	XP_011516197.1:p.Gly319Asp
XM_024447556.1:c.2519G>A	XP_024303324.1:p.Gly840Asp
XM_024447557.1:c.2510G>A	XP_024303325.1:p.Gly837Asp
XM_024447558.1:c.1532G>A	XP_024303326.1:p.Gly511Asp
XM_024447559.1:c.1115G>A	XP_024303327.1:p.Gly372Asp
XM_024447560.1:c.1106G>A	XP_024303328.1:p.Gly369Asp
XM_024447561.1:c.947G>A	XP_024303329.1:p.Gly316Asp
NM_003995.4:c.2351G>A MANE Select	NP_003986.2:p.Gly784Asp
NM_001378923.1:c.2360G>A	NP_001365852.1:p.Gly787Asp