Canonical Allele Identifier: CA5052162

Gene: NPR2 SPAG8

Linked Data

• ClinVar Variation Id: 800932
• ClinVar RCV Id: RCV000985135
• dbSNP Id: rs771373457
• ExAC: 9:35808830 G / A
• gnomAD v2: 9-35808830-G-A
• gnomAD v3: 9-35808833-G-A
• gnomAD v4: 9-35808833-G-A
• COSMIC: COSM1108820 ; COSM1598327
• MyVariant Identifiers: chr9:g.35808830G>A (hg19) ; chr9:g.35808833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35808833G>A , CM000671.2:g.35808833G>A	GRCh38
NC_000009.11:g.35808830G>A , CM000671.1:g.35808830G>A	GRCh37
NC_000009.10:g.35798830G>A	NCBI36
NG_009249.1:g.21425G>A
NG_047141.1:g.8440C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000421267.6:c.1006G>A (NPR2)
ENST00000448821.6:c.2791G>A (NPR2)	ENSP00000402902.2:n.2791G>A
ENST00000685871.1:c.2894G>A (NPR2)	ENSP00000509964.1:p.Arg965Gln
ENST00000686159.1:n.3005G>A (NPR2)
ENST00000686486.1:n.2207G>A (NPR2)
ENST00000687302.1:n.3151G>A (NPR2)
ENST00000687357.1:c.2819G>A (NPR2)	ENSP00000509549.1:p.Arg940Gln
ENST00000687625.1:n.2121G>A (NPR2)
ENST00000687787.1:c.3125G>A (NPR2)	ENSP00000509440.1:p.Arg1042Gln
ENST00000688201.1:n.2923G>A (NPR2)
ENST00000688226.1:n.2898G>A (NPR2)
ENST00000688869.1:n.3272G>A (NPR2)
ENST00000689788.1:c.2760G>A (NPR2)	ENSP00000508973.1:n.2760G>A
ENST00000689898.1:c.2823G>A (NPR2)	ENSP00000509651.1:n.2823G>A
ENST00000690070.1:c.3050G>A (NPR2)	ENSP00000509654.1:p.Arg1017Gln
ENST00000690267.1:c.2755G>A (NPR2)	ENSP00000510432.1:n.2755G>A
ENST00000690552.1:n.3311G>A (NPR2)
ENST00000691138.1:n.3310G>A (NPR2)
ENST00000691969.1:c.2466G>A (NPR2)	ENSP00000510244.1:n.2466G>A
ENST00000692232.1:n.4281G>A (NPR2)
ENST00000692233.1:c.2830G>A (NPR2)	ENSP00000509698.1:n.2830G>A
ENST00000692380.1:n.2121G>A (NPR2)
ENST00000692447.1:n.4082G>A (NPR2)
ENST00000693094.1:c.3056G>A (NPR2)	ENSP00000510161.1:p.Arg1019Gln
ENST00000342694.7:c.2966G>A (NPR2) MANE Select	ENSP00000341083.2:p.Arg989Gln
ENST00000340291.6:c.1373-527C>T (SPAG8)	ENSP00000340982.2:n.1373-527C>T
ENST00000342694.6:c.2966G>A (NPR2)	ENSP00000341083.2:p.Arg989Gln
ENST00000447210.5:c.483-819G>A (NPR2)	ENSP00000393029.1:n.483-819G>A
ENST00000448821.5:c.278G>A (NPR2)
ENST00000460836.5:n.417-527C>T (SPAG8)
ENST00000463889.5:n.467-527C>T (SPAG8)
ENST00000464810.5:n.3037G>A (NPR2)
ENST00000469249.1:n.433G>A (NPR2)
ENST00000475644.5:c.*826-527C>T (SPAG8)	ENSP00000418530.1:n.*826-527C>T
ENST00000489063.1:n.475-527C>T (SPAG8)
NM_003995.3:c.2966G>A (NPR2)	NP_003986.2:p.Arg989Gln
NM_172312.1:c.1373-527C>T (SPAG8)	NP_758516.1:n.1373-527C>T
XM_005251438.1:c.1201-527C>T (SPAG8)	XP_005251495.1:n.1201-527C>T
XM_005251478.3:c.2975G>A (NPR2)	XP_005251535.1:p.Arg992Gln
XM_005251479.3:c.1988G>A (NPR2)	XP_005251536.1:p.Arg663Gln
XM_006716778.2:c.2903G>A (NPR2)	XP_006716841.1:p.Arg968Gln
XM_011517889.1:c.1988G>A (NPR2)	XP_011516191.1:p.Arg663Gln
XM_011517890.1:c.1988G>A (NPR2)	XP_011516192.1:p.Arg663Gln
XM_011517891.1:c.1988G>A (NPR2)	XP_011516193.1:p.Arg663Gln
XM_011517892.1:c.1988G>A (NPR2)	XP_011516194.1:p.Arg663Gln
XM_011517893.1:c.1988G>A (NPR2)	XP_011516195.1:p.Arg663Gln
XM_011517894.1:c.1988G>A (NPR2)	XP_011516196.1:p.Arg663Gln
XM_011517895.1:c.1571G>A (NPR2)	XP_011516197.1:p.Arg524Gln
XM_024447512.1:c.1210-527C>T (SPAG8)	XP_024303280.1:n.1210-527C>T
XM_024447513.1:c.1201-527C>T (SPAG8)	XP_024303281.1:n.1201-527C>T
XM_024447556.1:c.3134G>A (NPR2)	XP_024303324.1:p.Arg1045Gln
XM_024447557.1:c.3125G>A (NPR2)	XP_024303325.1:p.Arg1042Gln
XM_024447558.1:c.2147G>A (NPR2)	XP_024303326.1:p.Arg716Gln
XM_024447559.1:c.1730G>A (NPR2)	XP_024303327.1:p.Arg577Gln
XM_024447560.1:c.1721G>A (NPR2)	XP_024303328.1:p.Arg574Gln
XM_024447561.1:c.1562G>A (NPR2)	XP_024303329.1:p.Arg521Gln
XR_002956772.1:n.1313-527C>T (SPAG8)
NM_001366760.2:c.1201-527C>T (SPAG8)	NP_001353689.1:n.1201-527C>T
NM_003995.4:c.2966G>A (NPR2) MANE Select	NP_003986.2:p.Arg989Gln
NM_172312.2:c.1373-527C>T (SPAG8)	NP_758516.1:n.1373-527C>T
NR_159431.2:n.1303-527C>T (SPAG8)
NM_001378923.1:c.2975G>A (NPR2)	NP_001365852.1:p.Arg992Gln