Canonical Allele Identifier: CA232240

Gene: NPR2 SPAG8

Linked Data

• ClinVar Variation Id: 91957
• ClinVar RCV Id: RCV000122514
• dbSNP Id: rs386352338
• ExAC: 9:35809214 G / T
• gnomAD v4: 9-35809217-G-T
• COSMIC: COSM1132490 ; COSM3685618
• MyVariant Identifiers: chr9:g.35809214G>T (hg19) ; chr9:g.35809217G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35809217G>T , CM000671.2:g.35809217G>T	GRCh38
NC_000009.11:g.35809214G>T , CM000671.1:g.35809214G>T	GRCh37
NC_000009.10:g.35799214G>T	NCBI36
NG_009249.1:g.21809G>T
NG_047141.1:g.8056C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000421267.6:c.1088G>T (NPR2)
ENST00000448821.6:c.2873G>T (NPR2)	ENSP00000402902.2:n.2873G>T
ENST00000685871.1:c.2976G>T (NPR2)	ENSP00000509964.1:p.Gln992His
ENST00000686159.1:n.3087G>T (NPR2)
ENST00000686486.1:n.2289G>T (NPR2)
ENST00000687302.1:n.3233G>T (NPR2)
ENST00000687357.1:c.2901G>T (NPR2)	ENSP00000509549.1:p.Gln967His
ENST00000687625.1:n.2203G>T (NPR2)
ENST00000687787.1:c.3207G>T (NPR2)	ENSP00000509440.1:p.Gln1069His
ENST00000688201.1:n.3005G>T (NPR2)
ENST00000688226.1:n.2980G>T (NPR2)
ENST00000688869.1:n.3354G>T (NPR2)
ENST00000689788.1:c.2842G>T (NPR2)	ENSP00000508973.1:n.2842G>T
ENST00000689898.1:c.2905G>T (NPR2)	ENSP00000509651.1:n.2905G>T
ENST00000690070.1:c.3132G>T (NPR2)	ENSP00000509654.1:p.Gln1044His
ENST00000690267.1:c.2837G>T (NPR2)	ENSP00000510432.1:n.2837G>T
ENST00000690552.1:n.3393G>T (NPR2)
ENST00000691138.1:n.3392G>T (NPR2)
ENST00000691969.1:c.2548G>T (NPR2)	ENSP00000510244.1:n.2548G>T
ENST00000692232.1:n.4363G>T (NPR2)
ENST00000692233.1:c.2912G>T (NPR2)	ENSP00000509698.1:n.2912G>T
ENST00000692380.1:n.2203G>T (NPR2)
ENST00000692447.1:n.4164G>T (NPR2)
ENST00000693094.1:c.3138G>T (NPR2)	ENSP00000510161.1:p.Gln1046His
ENST00000342694.7:c.3048G>T (NPR2) MANE Select	ENSP00000341083.2:p.Gln1016His
ENST00000340291.6:c.1372+187C>A (SPAG8)	ENSP00000340982.2:n.1372+187C>A
ENST00000342694.6:c.3048G>T (NPR2)	ENSP00000341083.2:p.Gln1016His
ENST00000447210.5:c.483-435G>T (NPR2)	ENSP00000393029.1:n.483-435G>T
ENST00000448821.5:c.360G>T (NPR2)
ENST00000460836.5:n.417-911C>A (SPAG8)
ENST00000463889.5:n.467-911C>A (SPAG8)
ENST00000464810.5:n.3119G>T (NPR2)
ENST00000469249.1:n.515G>T (NPR2)
ENST00000475644.5:c.*825+187C>A (SPAG8)	ENSP00000418530.1:n.*825+187C>A
ENST00000489063.1:n.474+187C>A (SPAG8)
NM_003995.3:c.3048G>T (NPR2)	NP_003986.2:p.Gln1016His
NM_172312.1:c.1372+187C>A (SPAG8)	NP_758516.1:n.1372+187C>A
XM_005251438.1:c.1201-911C>A (SPAG8)	XP_005251495.1:n.1201-911C>A
XM_005251478.3:c.3057G>T (NPR2)	XP_005251535.1:p.Gln1019His
XM_005251479.3:c.2070G>T (NPR2)	XP_005251536.1:p.Gln690His
XM_006716778.2:c.2985G>T (NPR2)	XP_006716841.1:p.Gln995His
XM_011517889.1:c.2070G>T (NPR2)	XP_011516191.1:p.Gln690His
XM_011517890.1:c.2070G>T (NPR2)	XP_011516192.1:p.Gln690His
XM_011517891.1:c.2070G>T (NPR2)	XP_011516193.1:p.Gln690His
XM_011517892.1:c.2070G>T (NPR2)	XP_011516194.1:p.Gln690His
XM_011517893.1:c.2070G>T (NPR2)	XP_011516195.1:p.Gln690His
XM_011517894.1:c.2070G>T (NPR2)	XP_011516196.1:p.Gln690His
XM_011517895.1:c.1653G>T (NPR2)	XP_011516197.1:p.Gln551His
XM_024447512.1:c.1210-911C>A (SPAG8)	XP_024303280.1:n.1210-911C>A
XM_024447513.1:c.1201-911C>A (SPAG8)	XP_024303281.1:n.1201-911C>A
XM_024447556.1:c.3216G>T (NPR2)	XP_024303324.1:p.Gln1072His
XM_024447557.1:c.3207G>T (NPR2)	XP_024303325.1:p.Gln1069His
XM_024447558.1:c.2229G>T (NPR2)	XP_024303326.1:p.Gln743His
XM_024447559.1:c.1812G>T (NPR2)	XP_024303327.1:p.Gln604His
XM_024447560.1:c.1803G>T (NPR2)	XP_024303328.1:p.Gln601His
XM_024447561.1:c.1644G>T (NPR2)	XP_024303329.1:p.Gln548His
XR_002956772.1:n.1313-911C>A (SPAG8)
NM_001366760.2:c.1201-911C>A (SPAG8)	NP_001353689.1:n.1201-911C>A
NM_003995.4:c.3048G>T (NPR2) MANE Select	NP_003986.2:p.Gln1016His
NM_172312.2:c.1372+187C>A (SPAG8)	NP_758516.1:n.1372+187C>A
NR_159431.2:n.1303-911C>A (SPAG8)
NM_001378923.1:c.3057G>T (NPR2)	NP_001365852.1:p.Gln1019His