Canonical Allele Identifier: CA5051638

Gene: NPR2

Linked Data

• ClinVar Variation Id: 1635216
• ClinVar RCV Id: RCV002135144
• dbSNP Id: rs775340388
• ExAC: 9:35800714 C / T
• gnomAD v2: 9-35800714-C-T
• gnomAD v3: 9-35800717-C-T
• gnomAD v4: 9-35800717-C-T
• MyVariant Identifiers: chr9:g.35800714C>T (hg19) ; chr9:g.35800717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35800717C>T , CM000671.2:g.35800717C>T	GRCh38
NC_000009.11:g.35800714C>T , CM000671.1:g.35800714C>T	GRCh37
NC_000009.10:g.35790714C>T	NCBI36
NG_009249.1:g.13309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448821.6:c.1227C>T	ENSP00000402902.2:p.Ala409=
ENST00000685871.1:c.1227C>T	ENSP00000509964.1:p.Ala409=
ENST00000686159.1:n.1266C>T
ENST00000686486.1:n.235C>T
ENST00000687302.1:n.1313C>T
ENST00000687357.1:c.1227C>T	ENSP00000509549.1:p.Ala409=
ENST00000687625.1:n.382C>T
ENST00000687787.1:c.1227C>T	ENSP00000509440.1:p.Ala409=
ENST00000688201.1:n.1259C>T
ENST00000688226.1:n.1159C>T
ENST00000688869.1:n.1533C>T
ENST00000689788.1:c.1021C>T	ENSP00000508973.1:n.1021C>T
ENST00000689898.1:c.1227C>T	ENSP00000509651.1:p.Ala409=
ENST00000690070.1:c.1227C>T	ENSP00000509654.1:p.Ala409=
ENST00000690267.1:c.1091C>T	ENSP00000510432.1:n.1091C>T
ENST00000690552.1:n.1088C>T
ENST00000691138.1:n.1088C>T
ENST00000691969.1:c.802C>T	ENSP00000510244.1:n.802C>T
ENST00000692232.1:n.2383C>T
ENST00000692233.1:c.1091C>T	ENSP00000509698.1:n.1091C>T
ENST00000692380.1:n.382C>T
ENST00000692447.1:n.2339C>T
ENST00000693094.1:c.1227C>T	ENSP00000510161.1:p.Ala409=
ENST00000342694.7:c.1227C>T MANE Select	ENSP00000341083.2:p.Ala409=
ENST00000342694.6:c.1227C>T	ENSP00000341083.2:p.Ala409=
ENST00000464810.5:n.1227C>T
NM_003995.3:c.1227C>T	NP_003986.2:p.Ala409=
XM_005251478.3:c.1227C>T	XP_005251535.1:p.Ala409=
XM_005251479.3:c.240C>T	XP_005251536.1:p.Ala80=
XM_006716778.2:c.1227C>T	XP_006716841.1:p.Ala409=
XM_011517889.1:c.240C>T	XP_011516191.1:p.Ala80=
XM_011517890.1:c.240C>T	XP_011516192.1:p.Ala80=
XM_011517891.1:c.240C>T	XP_011516193.1:p.Ala80=
XM_011517892.1:c.240C>T	XP_011516194.1:p.Ala80=
XM_011517893.1:c.240C>T	XP_011516195.1:p.Ala80=
XM_011517894.1:c.240C>T	XP_011516196.1:p.Ala80=
XM_024447556.1:c.1227C>T	XP_024303324.1:p.Ala409=
XM_024447557.1:c.1227C>T	XP_024303325.1:p.Ala409=
XM_024447558.1:c.240C>T	XP_024303326.1:p.Ala80=
XM_024447560.1:c.-182C>T	XP_024303328.1:n.-182C>T
XM_024447561.1:c.-182C>T	XP_024303329.1:n.-182C>T
NM_003995.4:c.1227C>T MANE Select	NP_003986.2:p.Ala409=
NM_001378923.1:c.1227C>T	NP_001365852.1:p.Ala409=