Canonical Allele Identifier: CA192770644
Gene: NPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1009939756
gnomAD v3: 9-35806191-C-T
gnomAD v4: 9-35806191-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35806191C>T , CM000671.2:g.35806191C>T GRCh38
NC_000009.11:g.35806188C>T , CM000671.1:g.35806188C>T GRCh37
NC_000009.10:g.35796188C>T NCBI36
NG_009249.1:g.18783C>T
NG_047141.1:g.11082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421267.6:c.370C>T
ENST00000448821.6:c.2330C>T ENSP00000402902.2:p.Pro777Leu
ENST00000685871.1:c.2258C>T ENSP00000509964.1:p.Pro753Leu
ENST00000686159.1:n.2369C>T
ENST00000686486.1:n.1500C>T
ENST00000687302.1:n.2444C>T
ENST00000687357.1:c.2183C>T ENSP00000509549.1:p.Pro728Leu
ENST00000687625.1:n.1485C>T
ENST00000687787.1:c.2489C>T ENSP00000509440.1:p.Pro830Leu
ENST00000688201.1:n.2287C>T
ENST00000688226.1:n.2262C>T
ENST00000688869.1:n.2636C>T
ENST00000689788.1:c.2124C>T ENSP00000508973.1:n.2124C>T
ENST00000689898.1:c.2187C>T ENSP00000509651.1:n.2187C>T
ENST00000690070.1:c.2414C>T ENSP00000509654.1:p.Pro805Leu
ENST00000690267.1:c.2119C>T ENSP00000510432.1:n.2119C>T
ENST00000690552.1:n.2191C>T
ENST00000691138.1:n.2119C>T
ENST00000691969.1:c.1830C>T ENSP00000510244.1:n.1830C>T
ENST00000692232.1:n.3645C>T
ENST00000692233.1:c.2194C>T ENSP00000509698.1:n.2194C>T
ENST00000692380.1:n.1485C>T
ENST00000692447.1:n.3446C>T
ENST00000693094.1:c.2330C>T ENSP00000510161.1:p.Pro777Leu
ENST00000342694.7:c.2330C>T MANE Select ENSP00000341083.2:p.Pro777Leu
ENST00000342694.6:c.2330C>T ENSP00000341083.2:p.Pro777Leu
ENST00000421267.5:c.370C>T
ENST00000447210.5:c.107C>T ENSP00000393029.1:p.Pro36Leu
ENST00000464810.5:n.2330C>T
NM_003995.3:c.2330C>T NP_003986.2:p.Pro777Leu
XM_005251478.3:c.2339C>T XP_005251535.1:p.Pro780Leu
XM_005251479.3:c.1352C>T XP_005251536.1:p.Pro451Leu
XM_006716778.2:c.2267C>T XP_006716841.1:p.Pro756Leu
XM_011517889.1:c.1352C>T XP_011516191.1:p.Pro451Leu
XM_011517890.1:c.1352C>T XP_011516192.1:p.Pro451Leu
XM_011517891.1:c.1352C>T XP_011516193.1:p.Pro451Leu
XM_011517892.1:c.1352C>T XP_011516194.1:p.Pro451Leu
XM_011517893.1:c.1352C>T XP_011516195.1:p.Pro451Leu
XM_011517894.1:c.1352C>T XP_011516196.1:p.Pro451Leu
XM_011517895.1:c.935C>T XP_011516197.1:p.Pro312Leu
XM_024447556.1:c.2498C>T XP_024303324.1:p.Pro833Leu
XM_024447557.1:c.2489C>T XP_024303325.1:p.Pro830Leu
XM_024447558.1:c.1511C>T XP_024303326.1:p.Pro504Leu
XM_024447559.1:c.1094C>T XP_024303327.1:p.Pro365Leu
XM_024447560.1:c.1085C>T XP_024303328.1:p.Pro362Leu
XM_024447561.1:c.926C>T XP_024303329.1:p.Pro309Leu
NM_003995.4:c.2330C>T MANE Select NP_003986.2:p.Pro777Leu
NM_001378923.1:c.2339C>T NP_001365852.1:p.Pro780Leu