Canonical Allele Identifier: CA373369547

Gene: NPR2

Linked Data

• ClinVar Variation Id: 468349
• ClinVar RCV Id: RCV000526471
• dbSNP Id: rs1554672893
• MyVariant Identifiers: chr9:g.35799729G>C (hg19) ; chr9:g.35799732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35799732G>C , CM000671.2:g.35799732G>C	GRCh38
NC_000009.11:g.35799729G>C , CM000671.1:g.35799729G>C	GRCh37
NC_000009.10:g.35789729G>C	NCBI36
NG_009249.1:g.12324G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.987+1G>C	ENSP00000402902.2:n.987+1G>C
ENST00000685871.1:c.987+1G>C	ENSP00000509964.1:n.987+1G>C
ENST00000686159.1:n.1026+1G>C
ENST00000687302.1:n.848+1G>C
ENST00000687357.1:c.987+1G>C	ENSP00000509549.1:n.987+1G>C
ENST00000687625.1:n.278+1G>C
ENST00000687787.1:c.987+1G>C	ENSP00000509440.1:n.987+1G>C
ENST00000688201.1:n.1019+1G>C
ENST00000688226.1:n.630G>C
ENST00000688869.1:n.1068+1G>C
ENST00000689788.1:c.781+1G>C	ENSP00000508973.1:n.781+1G>C
ENST00000689898.1:c.987+1G>C	ENSP00000509651.1:n.987+1G>C
ENST00000690070.1:c.987+1G>C	ENSP00000509654.1:n.987+1G>C
ENST00000690267.1:c.987+1G>C	ENSP00000510432.1:n.987+1G>C
ENST00000690552.1:n.848+1G>C
ENST00000691138.1:n.848+1G>C
ENST00000691969.1:c.562+1G>C	ENSP00000510244.1:n.562+1G>C
ENST00000692232.1:n.1398G>C
ENST00000692233.1:c.987+1G>C	ENSP00000509698.1:n.987+1G>C
ENST00000692380.1:n.278+1G>C
ENST00000692447.1:n.1810G>C
ENST00000693094.1:c.987+1G>C	ENSP00000510161.1:n.987+1G>C
ENST00000342694.7:c.987+1G>C MANE Select	ENSP00000341083.2:n.987+1G>C
ENST00000342694.6:c.987+1G>C	ENSP00000341083.2:n.987+1G>C
ENST00000464810.5:n.987+1G>C
NM_003995.3:c.987+1G>C	NP_003986.2:n.987+1G>C
XM_005251478.3:c.987+1G>C	XP_005251535.1:n.987+1G>C
XM_005251479.3:c.-1+1G>C	XP_005251536.1:n.-1+1G>C
XM_006716778.2:c.987+1G>C	XP_006716841.1:n.987+1G>C
XM_011517889.1:c.-1+1G>C	XP_011516191.1:n.-1+1G>C
XM_011517890.1:c.-1+1G>C	XP_011516192.1:n.-1+1G>C
XM_011517891.1:c.-1+1G>C	XP_011516193.1:n.-1+1G>C
XM_011517892.1:c.-1+1G>C	XP_011516194.1:n.-1+1G>C
XM_011517893.1:c.-1+1G>C	XP_011516195.1:n.-1+1G>C
XM_011517894.1:c.-1+1G>C	XP_011516196.1:n.-1+1G>C
XM_024447556.1:c.987+1G>C	XP_024303324.1:n.987+1G>C
XM_024447557.1:c.987+1G>C	XP_024303325.1:n.987+1G>C
XM_024447558.1:c.-1+1G>C	XP_024303326.1:n.-1+1G>C
XM_024447561.1:c.-711G>C	XP_024303329.1:n.-711G>C
NM_003995.4:c.987+1G>C MANE Select	NP_003986.2:n.987+1G>C
NM_001378923.1:c.987+1G>C	NP_001365852.1:n.987+1G>C