Canonical Allele Identifier: CA464614842

Gene: NPR2

Linked Data

• ClinVar Variation Id: 1546731
• ClinVar RCV Id: RCV002173095
• dbSNP Id: rs1453764250
• gnomAD v2: 9-35792412-C-T
• gnomAD v3: 9-35792415-C-T
• gnomAD v4: 9-35792415-C-T
• MyVariant Identifiers: chr9:g.35792412C>T (hg19) ; chr9:g.35792415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35792415C>T , CM000671.2:g.35792415C>T	GRCh38
NC_000009.11:g.35792412C>T , CM000671.1:g.35792412C>T	GRCh37
NC_000009.10:g.35782412C>T	NCBI36
NG_009249.1:g.5007C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000448821.6:c.7C>T	ENSP00000402902.2:p.Leu3=
ENST00000685871.1:c.7C>T	ENSP00000509964.1:p.Leu3=
ENST00000686159.1:n.74-28C>T
ENST00000687357.1:c.7C>T	ENSP00000509549.1:p.Leu3=
ENST00000687625.1:n.164+1249C>T
ENST00000687787.1:c.7C>T	ENSP00000509440.1:p.Leu3=
ENST00000688201.1:n.67-28C>T
ENST00000688869.1:n.88C>T
ENST00000689788.1:c.7C>T	ENSP00000508973.1:p.Leu3=
ENST00000689898.1:c.7C>T	ENSP00000509651.1:p.Leu3=
ENST00000690070.1:c.7C>T	ENSP00000509654.1:p.Leu3=
ENST00000690267.1:c.7C>T	ENSP00000510432.1:p.Leu3=
ENST00000691969.1:c.7C>T	ENSP00000510244.1:p.Leu3=
ENST00000692233.1:c.7C>T	ENSP00000509698.1:p.Leu3=
ENST00000692380.1:n.164+1249C>T
ENST00000692447.1:n.7C>T
ENST00000693094.1:c.7C>T	ENSP00000510161.1:p.Leu3=
ENST00000342694.7:c.7C>T MANE Select	ENSP00000341083.2:p.Leu3=
ENST00000342694.6:c.7C>T	ENSP00000341083.2:p.Leu3=
ENST00000464810.5:n.7C>T
NM_003995.3:c.7C>T	NP_003986.2:p.Leu3=
XM_005251478.3:c.7C>T	XP_005251535.1:p.Leu3=
XM_005251479.3:c.-115+2075C>T	XP_005251536.1:n.-115+2075C>T
XM_006716778.2:c.7C>T	XP_006716841.1:p.Leu3=
XM_011517889.1:c.-115+2075C>T	XP_011516191.1:n.-115+2075C>T
XM_011517890.1:c.-115+2075C>T	XP_011516192.1:n.-115+2075C>T
XM_011517891.1:c.-115+2075C>T	XP_011516193.1:n.-115+2075C>T
XM_011517892.1:c.-115+2075C>T	XP_011516194.1:n.-115+2075C>T
XM_011517893.1:c.-115+2075C>T	XP_011516195.1:n.-115+2075C>T
XM_011517894.1:c.-115+2075C>T	XP_011516196.1:n.-115+2075C>T
XM_024447556.1:c.7C>T	XP_024303324.1:p.Leu3=
XM_024447557.1:c.7C>T	XP_024303325.1:p.Leu3=
XM_024447558.1:c.-115+2075C>T	XP_024303326.1:n.-115+2075C>T
NM_003995.4:c.7C>T MANE Select	NP_003986.2:p.Leu3=
NM_001378923.1:c.7C>T	NP_001365852.1:p.Leu3=