Canonical Allele Identifier: CA5051645

Gene: NPR2

Linked Data

• ClinVar Variation Id: 2037188
• ClinVar RCV Id: RCV002885568
• dbSNP Id: rs143599560
• ExAC: 9:35800754 C / T
• gnomAD v2: 9-35800754-C-T
• gnomAD v3: 9-35800757-C-T
• gnomAD v4: 9-35800757-C-T
• MyVariant Identifiers: chr9:g.35800754C>T (hg19) ; chr9:g.35800757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35800757C>T , CM000671.2:g.35800757C>T	GRCh38
NC_000009.11:g.35800754C>T , CM000671.1:g.35800754C>T	GRCh37
NC_000009.10:g.35790754C>T	NCBI36
NG_009249.1:g.13349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.1267C>T	ENSP00000402902.2:p.Arg423Trp
ENST00000685871.1:c.1267C>T	ENSP00000509964.1:p.Arg423Trp
ENST00000686159.1:n.1306C>T
ENST00000686486.1:n.275C>T
ENST00000687302.1:n.1353C>T
ENST00000687357.1:c.1267C>T	ENSP00000509549.1:p.Arg423Trp
ENST00000687625.1:n.422C>T
ENST00000687787.1:c.1267C>T	ENSP00000509440.1:p.Arg423Trp
ENST00000688201.1:n.1299C>T
ENST00000688226.1:n.1199C>T
ENST00000688869.1:n.1573C>T
ENST00000689788.1:c.1061C>T	ENSP00000508973.1:n.1061C>T
ENST00000689898.1:c.1267C>T	ENSP00000509651.1:p.Arg423Trp
ENST00000690070.1:c.1267C>T	ENSP00000509654.1:p.Arg423Trp
ENST00000690267.1:c.1131C>T	ENSP00000510432.1:n.1131C>T
ENST00000690552.1:n.1128C>T
ENST00000691138.1:n.1128C>T
ENST00000691969.1:c.842C>T	ENSP00000510244.1:n.842C>T
ENST00000692232.1:n.2423C>T
ENST00000692233.1:c.1131C>T	ENSP00000509698.1:n.1131C>T
ENST00000692380.1:n.422C>T
ENST00000692447.1:n.2379C>T
ENST00000693094.1:c.1267C>T	ENSP00000510161.1:p.Arg423Trp
ENST00000342694.7:c.1267C>T MANE Select	ENSP00000341083.2:p.Arg423Trp
ENST00000342694.6:c.1267C>T	ENSP00000341083.2:p.Arg423Trp
ENST00000464810.5:n.1267C>T
NM_003995.3:c.1267C>T	NP_003986.2:p.Arg423Trp
XM_005251478.3:c.1267C>T	XP_005251535.1:p.Arg423Trp
XM_005251479.3:c.280C>T	XP_005251536.1:p.Arg94Trp
XM_006716778.2:c.1267C>T	XP_006716841.1:p.Arg423Trp
XM_011517889.1:c.280C>T	XP_011516191.1:p.Arg94Trp
XM_011517890.1:c.280C>T	XP_011516192.1:p.Arg94Trp
XM_011517891.1:c.280C>T	XP_011516193.1:p.Arg94Trp
XM_011517892.1:c.280C>T	XP_011516194.1:p.Arg94Trp
XM_011517893.1:c.280C>T	XP_011516195.1:p.Arg94Trp
XM_011517894.1:c.280C>T	XP_011516196.1:p.Arg94Trp
XM_011517895.1:c.-142C>T	XP_011516197.1:n.-142C>T
XM_024447556.1:c.1267C>T	XP_024303324.1:p.Arg423Trp
XM_024447557.1:c.1267C>T	XP_024303325.1:p.Arg423Trp
XM_024447558.1:c.280C>T	XP_024303326.1:p.Arg94Trp
XM_024447559.1:c.-142C>T	XP_024303327.1:n.-142C>T
XM_024447560.1:c.-142C>T	XP_024303328.1:n.-142C>T
XM_024447561.1:c.-142C>T	XP_024303329.1:n.-142C>T
NM_003995.4:c.1267C>T MANE Select	NP_003986.2:p.Arg423Trp
NM_001378923.1:c.1267C>T	NP_001365852.1:p.Arg423Trp