Canonical Allele Identifier: CA464615670
Gene: NPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1180937905
gnomAD v2: 9-35806147-G-A
gnomAD v4: 9-35806150-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35806150G>A , CM000671.2:g.35806150G>A GRCh38
NC_000009.11:g.35806147G>A , CM000671.1:g.35806147G>A GRCh37
NC_000009.10:g.35796147G>A NCBI36
NG_009249.1:g.18742G>A
NG_047141.1:g.11123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421267.6:c.329G>A
ENST00000448821.6:c.2289G>A ENSP00000402902.2:p.Leu763=
ENST00000685871.1:c.2217G>A ENSP00000509964.1:p.Leu739=
ENST00000686159.1:n.2328G>A
ENST00000686486.1:n.1459G>A
ENST00000687302.1:n.2403G>A
ENST00000687357.1:c.2142G>A ENSP00000509549.1:p.Leu714=
ENST00000687625.1:n.1444G>A
ENST00000687787.1:c.2448G>A ENSP00000509440.1:p.Leu816=
ENST00000688201.1:n.2246G>A
ENST00000688226.1:n.2221G>A
ENST00000688869.1:n.2595G>A
ENST00000689788.1:c.2083G>A ENSP00000508973.1:n.2083G>A
ENST00000689898.1:c.2146G>A ENSP00000509651.1:n.2146G>A
ENST00000690070.1:c.2373G>A ENSP00000509654.1:p.Leu791=
ENST00000690267.1:c.2078G>A ENSP00000510432.1:n.2078G>A
ENST00000690552.1:n.2150G>A
ENST00000691138.1:n.2078G>A
ENST00000691969.1:c.1789G>A ENSP00000510244.1:n.1789G>A
ENST00000692232.1:n.3604G>A
ENST00000692233.1:c.2153G>A ENSP00000509698.1:n.2153G>A
ENST00000692380.1:n.1444G>A
ENST00000692447.1:n.3405G>A
ENST00000693094.1:c.2289G>A ENSP00000510161.1:p.Leu763=
ENST00000342694.7:c.2289G>A MANE Select ENSP00000341083.2:p.Leu763=
ENST00000342694.6:c.2289G>A ENSP00000341083.2:p.Leu763=
ENST00000421267.5:c.329G>A
ENST00000447210.5:c.66G>A ENSP00000393029.1:p.Leu22=
ENST00000464810.5:n.2289G>A
NM_003995.3:c.2289G>A NP_003986.2:p.Leu763=
XM_005251478.3:c.2298G>A XP_005251535.1:p.Leu766=
XM_005251479.3:c.1311G>A XP_005251536.1:p.Leu437=
XM_006716778.2:c.2226G>A XP_006716841.1:p.Leu742=
XM_011517889.1:c.1311G>A XP_011516191.1:p.Leu437=
XM_011517890.1:c.1311G>A XP_011516192.1:p.Leu437=
XM_011517891.1:c.1311G>A XP_011516193.1:p.Leu437=
XM_011517892.1:c.1311G>A XP_011516194.1:p.Leu437=
XM_011517893.1:c.1311G>A XP_011516195.1:p.Leu437=
XM_011517894.1:c.1311G>A XP_011516196.1:p.Leu437=
XM_011517895.1:c.894G>A XP_011516197.1:p.Leu298=
XM_024447556.1:c.2457G>A XP_024303324.1:p.Leu819=
XM_024447557.1:c.2448G>A XP_024303325.1:p.Leu816=
XM_024447558.1:c.1470G>A XP_024303326.1:p.Leu490=
XM_024447559.1:c.1053G>A XP_024303327.1:p.Leu351=
XM_024447560.1:c.1044G>A XP_024303328.1:p.Leu348=
XM_024447561.1:c.885G>A XP_024303329.1:p.Leu295=
NM_003995.4:c.2289G>A MANE Select NP_003986.2:p.Leu763=
NM_001378923.1:c.2298G>A NP_001365852.1:p.Leu766=