Canonical Allele Identifier: CA373371617
Gene: NPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35801126T>C , CM000671.2:g.35801126T>C GRCh38
NC_000009.11:g.35801123T>C , CM000671.1:g.35801123T>C GRCh37
NC_000009.10:g.35791123T>C NCBI36
NG_009249.1:g.13718T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448821.6:c.1408T>C ENSP00000402902.2:p.Phe470Leu
ENST00000685871.1:c.1408T>C ENSP00000509964.1:p.Phe470Leu
ENST00000686159.1:n.1447T>C
ENST00000686486.1:n.416T>C
ENST00000687302.1:n.1494T>C
ENST00000687357.1:c.1408T>C ENSP00000509549.1:p.Phe470Leu
ENST00000687625.1:n.563T>C
ENST00000687787.1:c.1408T>C ENSP00000509440.1:p.Phe470Leu
ENST00000688201.1:n.1440T>C
ENST00000688226.1:n.1340T>C
ENST00000688869.1:n.1714T>C
ENST00000689788.1:c.1202T>C ENSP00000508973.1:n.1202T>C
ENST00000689898.1:c.1412T>C ENSP00000509651.1:p.Val471Ala
ENST00000690070.1:c.1408T>C ENSP00000509654.1:p.Phe470Leu
ENST00000690267.1:c.1272T>C ENSP00000510432.1:n.1272T>C
ENST00000690552.1:n.1269T>C
ENST00000691138.1:n.1269T>C
ENST00000691969.1:c.983T>C ENSP00000510244.1:n.983T>C
ENST00000692232.1:n.2564T>C
ENST00000692233.1:c.1272T>C ENSP00000509698.1:n.1272T>C
ENST00000692380.1:n.563T>C
ENST00000692447.1:n.2524T>C
ENST00000693094.1:c.1408T>C ENSP00000510161.1:p.Phe470Leu
ENST00000342694.7:c.1408T>C MANE Select ENSP00000341083.2:p.Phe470Leu
ENST00000342694.6:c.1408T>C ENSP00000341083.2:p.Phe470Leu
ENST00000464810.5:n.1408T>C
NM_003995.3:c.1408T>C NP_003986.2:p.Phe470Leu
XM_005251478.3:c.1408T>C XP_005251535.1:p.Phe470Leu
XM_005251479.3:c.421T>C XP_005251536.1:p.Phe141Leu
XM_006716778.2:c.1408T>C XP_006716841.1:p.Phe470Leu
XM_011517889.1:c.421T>C XP_011516191.1:p.Phe141Leu
XM_011517890.1:c.421T>C XP_011516192.1:p.Phe141Leu
XM_011517891.1:c.421T>C XP_011516193.1:p.Phe141Leu
XM_011517892.1:c.421T>C XP_011516194.1:p.Phe141Leu
XM_011517893.1:c.421T>C XP_011516195.1:p.Phe141Leu
XM_011517894.1:c.421T>C XP_011516196.1:p.Phe141Leu
XM_011517895.1:c.4T>C XP_011516197.1:p.Phe2Leu
XM_024447556.1:c.1408T>C XP_024303324.1:p.Phe470Leu
XM_024447557.1:c.1408T>C XP_024303325.1:p.Phe470Leu
XM_024447558.1:c.421T>C XP_024303326.1:p.Phe141Leu
XM_024447559.1:c.4T>C XP_024303327.1:p.Phe2Leu
XM_024447560.1:c.4T>C XP_024303328.1:p.Phe2Leu
XM_024447561.1:c.4T>C XP_024303329.1:p.Phe2Leu
NM_003995.4:c.1408T>C MANE Select NP_003986.2:p.Phe470Leu
NM_001378923.1:c.1408T>C NP_001365852.1:p.Phe470Leu