Canonical Allele Identifier: CA2689906860

Gene: NPR2

Linked Data

• ClinVar Variation Id: 2924357
• ClinVar RCV Id: RCV003786107
• gnomAD v4: 9-35801920-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35801920C>G , CM000671.2:g.35801920C>G	GRCh38
NC_000009.11:g.35801917C>G , CM000671.1:g.35801917C>G	GRCh37
NC_000009.10:g.35791917C>G	NCBI36
NG_009249.1:g.14512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.1558-6C>G	ENSP00000402902.2:n.1558-6C>G
ENST00000685871.1:c.1558-6C>G	ENSP00000509964.1:n.1558-6C>G
ENST00000686159.1:n.1597-6C>G
ENST00000686486.1:n.722C>G
ENST00000687302.1:n.1644-6C>G
ENST00000687357.1:c.1557+157C>G	ENSP00000509549.1:n.1557+157C>G
ENST00000687625.1:n.713-6C>G
ENST00000687787.1:c.1558-6C>G	ENSP00000509440.1:n.1558-6C>G
ENST00000688201.1:n.1589+157C>G
ENST00000688226.1:n.1490-6C>G
ENST00000688869.1:n.1864-6C>G
ENST00000689788.1:c.1352-6C>G	ENSP00000508973.1:n.1352-6C>G
ENST00000689898.1:c.1561+157C>G	ENSP00000509651.1:n.1561+157C>G
ENST00000690070.1:c.1557+157C>G	ENSP00000509654.1:n.1557+157C>G
ENST00000690267.1:c.1421+157C>G	ENSP00000510432.1:n.1421+157C>G
ENST00000690552.1:n.1419-6C>G
ENST00000691138.1:n.1419-6C>G
ENST00000691969.1:c.1132+157C>G	ENSP00000510244.1:n.1132+157C>G
ENST00000692232.1:n.2714-6C>G
ENST00000692233.1:c.1422-6C>G	ENSP00000509698.1:n.1422-6C>G
ENST00000692380.1:n.713-6C>G
ENST00000692447.1:n.2674-6C>G
ENST00000693094.1:c.1558-6C>G	ENSP00000510161.1:n.1558-6C>G
ENST00000342694.7:c.1558-6C>G MANE Select	ENSP00000341083.2:n.1558-6C>G
ENST00000342694.6:c.1558-6C>G	ENSP00000341083.2:n.1558-6C>G
ENST00000464810.5:n.1558-6C>G
NM_003995.3:c.1558-6C>G	NP_003986.2:n.1558-6C>G
XM_005251478.3:c.1567-6C>G	XP_005251535.1:n.1567-6C>G
XM_005251479.3:c.580-6C>G	XP_005251536.1:n.580-6C>G
XM_006716778.2:c.1567-6C>G	XP_006716841.1:n.1567-6C>G
XM_011517889.1:c.580-6C>G	XP_011516191.1:n.580-6C>G
XM_011517890.1:c.580-6C>G	XP_011516192.1:n.580-6C>G
XM_011517891.1:c.580-6C>G	XP_011516193.1:n.580-6C>G
XM_011517892.1:c.580-6C>G	XP_011516194.1:n.580-6C>G
XM_011517893.1:c.580-6C>G	XP_011516195.1:n.580-6C>G
XM_011517894.1:c.580-6C>G	XP_011516196.1:n.580-6C>G
XM_011517895.1:c.163-6C>G	XP_011516197.1:n.163-6C>G
XM_024447556.1:c.1567-6C>G	XP_024303324.1:n.1567-6C>G
XM_024447557.1:c.1558-6C>G	XP_024303325.1:n.1558-6C>G
XM_024447558.1:c.580-6C>G	XP_024303326.1:n.580-6C>G
XM_024447559.1:c.163-6C>G	XP_024303327.1:n.163-6C>G
XM_024447560.1:c.154-6C>G	XP_024303328.1:n.154-6C>G
XM_024447561.1:c.154-6C>G	XP_024303329.1:n.154-6C>G
NM_003995.4:c.1558-6C>G MANE Select	NP_003986.2:n.1558-6C>G
NM_001378923.1:c.1567-6C>G	NP_001365852.1:n.1567-6C>G