Canonical Allele Identifier: CA373371488
Gene: NPR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35801093G>C , CM000671.2:g.35801093G>C GRCh38
NC_000009.11:g.35801090G>C , CM000671.1:g.35801090G>C GRCh37
NC_000009.10:g.35791090G>C NCBI36
NG_009249.1:g.13685G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448821.6:c.1375G>C ENSP00000402902.2:p.Val459Leu
ENST00000685871.1:c.1375G>C ENSP00000509964.1:p.Val459Leu
ENST00000686159.1:n.1414G>C
ENST00000686486.1:n.383G>C
ENST00000687302.1:n.1461G>C
ENST00000687357.1:c.1375G>C ENSP00000509549.1:p.Val459Leu
ENST00000687625.1:n.530G>C
ENST00000687787.1:c.1375G>C ENSP00000509440.1:p.Val459Leu
ENST00000688201.1:n.1407G>C
ENST00000688226.1:n.1307G>C
ENST00000688869.1:n.1681G>C
ENST00000689788.1:c.1169G>C ENSP00000508973.1:n.1169G>C
ENST00000689898.1:c.1379G>C ENSP00000509651.1:p.Cys460Ser
ENST00000690070.1:c.1375G>C ENSP00000509654.1:p.Val459Leu
ENST00000690267.1:c.1239G>C ENSP00000510432.1:n.1239G>C
ENST00000690552.1:n.1236G>C
ENST00000691138.1:n.1236G>C
ENST00000691969.1:c.950G>C ENSP00000510244.1:n.950G>C
ENST00000692232.1:n.2531G>C
ENST00000692233.1:c.1239G>C ENSP00000509698.1:n.1239G>C
ENST00000692380.1:n.530G>C
ENST00000692447.1:n.2491G>C
ENST00000693094.1:c.1375G>C ENSP00000510161.1:p.Val459Leu
ENST00000342694.7:c.1375G>C MANE Select ENSP00000341083.2:p.Val459Leu
ENST00000342694.6:c.1375G>C ENSP00000341083.2:p.Val459Leu
ENST00000464810.5:n.1375G>C
NM_003995.3:c.1375G>C NP_003986.2:p.Val459Leu
XM_005251478.3:c.1375G>C XP_005251535.1:p.Val459Leu
XM_005251479.3:c.388G>C XP_005251536.1:p.Val130Leu
XM_006716778.2:c.1375G>C XP_006716841.1:p.Val459Leu
XM_011517889.1:c.388G>C XP_011516191.1:p.Val130Leu
XM_011517890.1:c.388G>C XP_011516192.1:p.Val130Leu
XM_011517891.1:c.388G>C XP_011516193.1:p.Val130Leu
XM_011517892.1:c.388G>C XP_011516194.1:p.Val130Leu
XM_011517893.1:c.388G>C XP_011516195.1:p.Val130Leu
XM_011517894.1:c.388G>C XP_011516196.1:p.Val130Leu
XM_011517895.1:c.-30G>C XP_011516197.1:n.-30G>C
XM_024447556.1:c.1375G>C XP_024303324.1:p.Val459Leu
XM_024447557.1:c.1375G>C XP_024303325.1:p.Val459Leu
XM_024447558.1:c.388G>C XP_024303326.1:p.Val130Leu
XM_024447559.1:c.-30G>C XP_024303327.1:n.-30G>C
XM_024447560.1:c.-30G>C XP_024303328.1:n.-30G>C
XM_024447561.1:c.-30G>C XP_024303329.1:n.-30G>C
NM_003995.4:c.1375G>C MANE Select NP_003986.2:p.Val459Leu
NM_001378923.1:c.1375G>C NP_001365852.1:p.Val459Leu