Canonical Allele Identifier: CA373361725
Gene: NPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427217
ClinVar RCV Id: RCV000490251
dbSNP Id: rs1085308030
MyVariant Identifiers: chr9:g.35792545C>T (hg19) chr9:g.35792548C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35792548C>T , CM000671.2:g.35792548C>T GRCh38
NC_000009.11:g.35792545C>T , CM000671.1:g.35792545C>T GRCh37
NC_000009.10:g.35782545C>T NCBI36
NG_009249.1:g.5140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000448821.6:c.140C>T ENSP00000402902.2:p.Pro47Leu
ENST00000685871.1:c.140C>T ENSP00000509964.1:p.Pro47Leu
ENST00000686159.1:n.179C>T
ENST00000687302.1:n.1C>T
ENST00000687357.1:c.140C>T ENSP00000509549.1:p.Pro47Leu
ENST00000687625.1:n.164+1382C>T
ENST00000687787.1:c.140C>T ENSP00000509440.1:p.Pro47Leu
ENST00000688201.1:n.172C>T
ENST00000688869.1:n.221C>T
ENST00000689788.1:c.140C>T ENSP00000508973.1:p.Pro47Leu
ENST00000689898.1:c.140C>T ENSP00000509651.1:p.Pro47Leu
ENST00000690070.1:c.140C>T ENSP00000509654.1:p.Pro47Leu
ENST00000690267.1:c.140C>T ENSP00000510432.1:p.Pro47Leu
ENST00000690552.1:n.1C>T
ENST00000691138.1:n.1C>T
ENST00000691969.1:c.140C>T ENSP00000510244.1:p.Pro47Leu
ENST00000692233.1:c.140C>T ENSP00000509698.1:p.Pro47Leu
ENST00000692380.1:n.164+1382C>T
ENST00000692447.1:n.140C>T
ENST00000693094.1:c.140C>T ENSP00000510161.1:p.Pro47Leu
ENST00000342694.7:c.140C>T MANE Select ENSP00000341083.2:p.Pro47Leu
ENST00000342694.6:c.140C>T ENSP00000341083.2:p.Pro47Leu
ENST00000464810.5:n.140C>T
NM_003995.3:c.140C>T NP_003986.2:p.Pro47Leu
XM_005251478.3:c.140C>T XP_005251535.1:p.Pro47Leu
XM_005251479.3:c.-115+2208C>T XP_005251536.1:n.-115+2208C>T
XM_006716778.2:c.140C>T XP_006716841.1:p.Pro47Leu
XM_011517889.1:c.-115+2208C>T XP_011516191.1:n.-115+2208C>T
XM_011517890.1:c.-115+2208C>T XP_011516192.1:n.-115+2208C>T
XM_011517891.1:c.-115+2208C>T XP_011516193.1:n.-115+2208C>T
XM_011517892.1:c.-115+2208C>T XP_011516194.1:n.-115+2208C>T
XM_011517893.1:c.-115+2208C>T XP_011516195.1:n.-115+2208C>T
XM_011517894.1:c.-115+2208C>T XP_011516196.1:n.-115+2208C>T
XM_024447556.1:c.140C>T XP_024303324.1:p.Pro47Leu
XM_024447557.1:c.140C>T XP_024303325.1:p.Pro47Leu
XM_024447558.1:c.-115+2208C>T XP_024303326.1:n.-115+2208C>T
NM_003995.4:c.140C>T MANE Select NP_003986.2:p.Pro47Leu
NM_001378923.1:c.140C>T NP_001365852.1:p.Pro47Leu
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