Canonical Allele Identifier: CA245235

Gene: NPR2

Linked Data

• ClinVar Variation Id: 197226
• ClinVar RCV Id: RCV000178204 ; RCV003765098
• dbSNP Id: rs555614149
• ExAC: 9:35800012 C / A
• gnomAD v2: 9-35800012-C-A
• gnomAD v3: 9-35800015-C-A
• gnomAD v4: 9-35800015-C-A
• MyVariant Identifiers: chr9:g.35800012C>A (hg19) ; chr9:g.35800015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35800015C>A , CM000671.2:g.35800015C>A	GRCh38
NC_000009.11:g.35800012C>A , CM000671.1:g.35800012C>A	GRCh37
NC_000009.10:g.35790012C>A	NCBI36
NG_009249.1:g.12607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.988-7C>A	ENSP00000402902.2:n.988-7C>A
ENST00000685871.1:c.988-7C>A	ENSP00000509964.1:n.988-7C>A
ENST00000686159.1:n.1027-7C>A
ENST00000687302.1:n.849-7C>A
ENST00000687357.1:c.988-7C>A	ENSP00000509549.1:n.988-7C>A
ENST00000687625.1:n.278+284C>A
ENST00000687787.1:c.988-7C>A	ENSP00000509440.1:n.988-7C>A
ENST00000688201.1:n.1020-7C>A
ENST00000688226.1:n.913C>A
ENST00000688869.1:n.1069-7C>A
ENST00000689788.1:c.782-7C>A	ENSP00000508973.1:n.782-7C>A
ENST00000689898.1:c.988-7C>A	ENSP00000509651.1:n.988-7C>A
ENST00000690070.1:c.988-7C>A	ENSP00000509654.1:n.988-7C>A
ENST00000690267.1:c.987+284C>A	ENSP00000510432.1:n.987+284C>A
ENST00000690552.1:n.849-7C>A
ENST00000691138.1:n.849-7C>A
ENST00000691969.1:c.563-7C>A	ENSP00000510244.1:n.563-7C>A
ENST00000692232.1:n.1681C>A
ENST00000692233.1:c.987+284C>A	ENSP00000509698.1:n.987+284C>A
ENST00000692380.1:n.278+284C>A
ENST00000692447.1:n.2093C>A
ENST00000693094.1:c.988-7C>A	ENSP00000510161.1:n.988-7C>A
ENST00000342694.7:c.988-7C>A MANE Select	ENSP00000341083.2:n.988-7C>A
ENST00000342694.6:c.988-7C>A	ENSP00000341083.2:n.988-7C>A
ENST00000464810.5:n.988-7C>A
NM_003995.3:c.988-7C>A	NP_003986.2:n.988-7C>A
XM_005251478.3:c.988-7C>A	XP_005251535.1:n.988-7C>A
XM_005251479.3:c.1-7C>A	XP_005251536.1:n.1-7C>A
XM_006716778.2:c.988-7C>A	XP_006716841.1:n.988-7C>A
XM_011517889.1:c.1-7C>A	XP_011516191.1:n.1-7C>A
XM_011517890.1:c.1-7C>A	XP_011516192.1:n.1-7C>A
XM_011517891.1:c.1-7C>A	XP_011516193.1:n.1-7C>A
XM_011517892.1:c.1-7C>A	XP_011516194.1:n.1-7C>A
XM_011517893.1:c.1-7C>A	XP_011516195.1:n.1-7C>A
XM_011517894.1:c.1-7C>A	XP_011516196.1:n.1-7C>A
XM_024447556.1:c.988-7C>A	XP_024303324.1:n.988-7C>A
XM_024447557.1:c.988-7C>A	XP_024303325.1:n.988-7C>A
XM_024447558.1:c.1-7C>A	XP_024303326.1:n.1-7C>A
XM_024447561.1:c.-428C>A	XP_024303329.1:n.-428C>A
NM_003995.4:c.988-7C>A MANE Select	NP_003986.2:n.988-7C>A
NM_001378923.1:c.988-7C>A	NP_001365852.1:n.988-7C>A