Canonical Allele Identifier: CA373379257

Gene: NPR2

Linked Data

• ClinVar Variation Id: 1301658
• ClinVar RCV Id: RCV001733607 ; RCV002032734
• dbSNP Id: rs1303913631
• gnomAD v2: 9-35806184-C-T
• gnomAD v4: 9-35806187-C-T
• MyVariant Identifiers: chr9:g.35806184C>T (hg19) ; chr9:g.35806187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35806187C>T , CM000671.2:g.35806187C>T	GRCh38
NC_000009.11:g.35806184C>T , CM000671.1:g.35806184C>T	GRCh37
NC_000009.10:g.35796184C>T	NCBI36
NG_009249.1:g.18779C>T
NG_047141.1:g.11086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421267.6:c.366C>T
ENST00000448821.6:c.2326C>T	ENSP00000402902.2:p.Arg776Trp
ENST00000685871.1:c.2254C>T	ENSP00000509964.1:p.Arg752Trp
ENST00000686159.1:n.2365C>T
ENST00000686486.1:n.1496C>T
ENST00000687302.1:n.2440C>T
ENST00000687357.1:c.2179C>T	ENSP00000509549.1:p.Arg727Trp
ENST00000687625.1:n.1481C>T
ENST00000687787.1:c.2485C>T	ENSP00000509440.1:p.Arg829Trp
ENST00000688201.1:n.2283C>T
ENST00000688226.1:n.2258C>T
ENST00000688869.1:n.2632C>T
ENST00000689788.1:c.2120C>T	ENSP00000508973.1:n.2120C>T
ENST00000689898.1:c.2183C>T	ENSP00000509651.1:n.2183C>T
ENST00000690070.1:c.2410C>T	ENSP00000509654.1:p.Arg804Trp
ENST00000690267.1:c.2115C>T	ENSP00000510432.1:n.2115C>T
ENST00000690552.1:n.2187C>T
ENST00000691138.1:n.2115C>T
ENST00000691969.1:c.1826C>T	ENSP00000510244.1:n.1826C>T
ENST00000692232.1:n.3641C>T
ENST00000692233.1:c.2190C>T	ENSP00000509698.1:n.2190C>T
ENST00000692380.1:n.1481C>T
ENST00000692447.1:n.3442C>T
ENST00000693094.1:c.2326C>T	ENSP00000510161.1:p.Arg776Trp
ENST00000342694.7:c.2326C>T MANE Select	ENSP00000341083.2:p.Arg776Trp
ENST00000342694.6:c.2326C>T	ENSP00000341083.2:p.Arg776Trp
ENST00000421267.5:c.366C>T
ENST00000447210.5:c.103C>T	ENSP00000393029.1:p.Arg35Trp
ENST00000464810.5:n.2326C>T
NM_003995.3:c.2326C>T	NP_003986.2:p.Arg776Trp
XM_005251478.3:c.2335C>T	XP_005251535.1:p.Arg779Trp
XM_005251479.3:c.1348C>T	XP_005251536.1:p.Arg450Trp
XM_006716778.2:c.2263C>T	XP_006716841.1:p.Arg755Trp
XM_011517889.1:c.1348C>T	XP_011516191.1:p.Arg450Trp
XM_011517890.1:c.1348C>T	XP_011516192.1:p.Arg450Trp
XM_011517891.1:c.1348C>T	XP_011516193.1:p.Arg450Trp
XM_011517892.1:c.1348C>T	XP_011516194.1:p.Arg450Trp
XM_011517893.1:c.1348C>T	XP_011516195.1:p.Arg450Trp
XM_011517894.1:c.1348C>T	XP_011516196.1:p.Arg450Trp
XM_011517895.1:c.931C>T	XP_011516197.1:p.Arg311Trp
XM_024447556.1:c.2494C>T	XP_024303324.1:p.Arg832Trp
XM_024447557.1:c.2485C>T	XP_024303325.1:p.Arg829Trp
XM_024447558.1:c.1507C>T	XP_024303326.1:p.Arg503Trp
XM_024447559.1:c.1090C>T	XP_024303327.1:p.Arg364Trp
XM_024447560.1:c.1081C>T	XP_024303328.1:p.Arg361Trp
XM_024447561.1:c.922C>T	XP_024303329.1:p.Arg308Trp
NM_003995.4:c.2326C>T MANE Select	NP_003986.2:p.Arg776Trp
NM_001378923.1:c.2335C>T	NP_001365852.1:p.Arg779Trp