Canonical Allele Identifier: CA5051950

Gene: NPR2

Linked Data

• ClinVar Variation Id: 1036264
• ClinVar RCV Id: RCV001339247
• dbSNP Id: rs761484215
• ExAC: 9:35806220 C / T
• gnomAD v2: 9-35806220-C-T
• gnomAD v3: 9-35806223-C-T
• gnomAD v4: 9-35806223-C-T
• MyVariant Identifiers: chr9:g.35806220C>T (hg19) ; chr9:g.35806223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35806223C>T , CM000671.2:g.35806223C>T	GRCh38
NC_000009.11:g.35806220C>T , CM000671.1:g.35806220C>T	GRCh37
NC_000009.10:g.35796220C>T	NCBI36
NG_009249.1:g.18815C>T
NG_047141.1:g.11050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421267.6:c.402C>T
ENST00000448821.6:c.2362C>T	ENSP00000402902.2:p.Arg788Cys
ENST00000685871.1:c.2290C>T	ENSP00000509964.1:p.Arg764Cys
ENST00000686159.1:n.2401C>T
ENST00000686486.1:n.1532C>T
ENST00000687302.1:n.2476C>T
ENST00000687357.1:c.2215C>T	ENSP00000509549.1:p.Arg739Cys
ENST00000687625.1:n.1517C>T
ENST00000687787.1:c.2521C>T	ENSP00000509440.1:p.Arg841Cys
ENST00000688201.1:n.2319C>T
ENST00000688226.1:n.2294C>T
ENST00000688869.1:n.2668C>T
ENST00000689788.1:c.2156C>T	ENSP00000508973.1:n.2156C>T
ENST00000689898.1:c.2219C>T	ENSP00000509651.1:n.2219C>T
ENST00000690070.1:c.2446C>T	ENSP00000509654.1:p.Arg816Cys
ENST00000690267.1:c.2151C>T	ENSP00000510432.1:n.2151C>T
ENST00000690552.1:n.2223C>T
ENST00000691138.1:n.2151C>T
ENST00000691969.1:c.1862C>T	ENSP00000510244.1:n.1862C>T
ENST00000692232.1:n.3677C>T
ENST00000692233.1:c.2226C>T	ENSP00000509698.1:n.2226C>T
ENST00000692380.1:n.1517C>T
ENST00000692447.1:n.3478C>T
ENST00000693094.1:c.2362C>T	ENSP00000510161.1:p.Arg788Cys
ENST00000342694.7:c.2362C>T MANE Select	ENSP00000341083.2:p.Arg788Cys
ENST00000342694.6:c.2362C>T	ENSP00000341083.2:p.Arg788Cys
ENST00000421267.5:c.402C>T
ENST00000447210.5:c.139C>T	ENSP00000393029.1:p.Arg47Cys
ENST00000464810.5:n.2362C>T
NM_003995.3:c.2362C>T	NP_003986.2:p.Arg788Cys
XM_005251478.3:c.2371C>T	XP_005251535.1:p.Arg791Cys
XM_005251479.3:c.1384C>T	XP_005251536.1:p.Arg462Cys
XM_006716778.2:c.2299C>T	XP_006716841.1:p.Arg767Cys
XM_011517889.1:c.1384C>T	XP_011516191.1:p.Arg462Cys
XM_011517890.1:c.1384C>T	XP_011516192.1:p.Arg462Cys
XM_011517891.1:c.1384C>T	XP_011516193.1:p.Arg462Cys
XM_011517892.1:c.1384C>T	XP_011516194.1:p.Arg462Cys
XM_011517893.1:c.1384C>T	XP_011516195.1:p.Arg462Cys
XM_011517894.1:c.1384C>T	XP_011516196.1:p.Arg462Cys
XM_011517895.1:c.967C>T	XP_011516197.1:p.Arg323Cys
XM_024447556.1:c.2530C>T	XP_024303324.1:p.Arg844Cys
XM_024447557.1:c.2521C>T	XP_024303325.1:p.Arg841Cys
XM_024447558.1:c.1543C>T	XP_024303326.1:p.Arg515Cys
XM_024447559.1:c.1126C>T	XP_024303327.1:p.Arg376Cys
XM_024447560.1:c.1117C>T	XP_024303328.1:p.Arg373Cys
XM_024447561.1:c.958C>T	XP_024303329.1:p.Arg320Cys
NM_003995.4:c.2362C>T MANE Select	NP_003986.2:p.Arg788Cys
NM_001378923.1:c.2371C>T	NP_001365852.1:p.Arg791Cys