Canonical Allele Identifier: CA16043444
Gene: NPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373987
ClinVar RCV Id: RCV000415200
dbSNP Id: rs1057518817

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35805944_35805954del , CM000671.2:g.35805944_35805954del GRCh38
NC_000009.11:g.35805941_35805951del , CM000671.1:g.35805941_35805951del GRCh37
NC_000009.10:g.35795941_35795951del NCBI36
NG_009249.1:g.18536_18546del
NG_047141.1:g.11319_11329del

Transcript Alleles

HGVS Amino-acid change
ENST00000421267.6:c.202_212del
ENST00000448821.6:c.2162_2172del ENSP00000402902.2:p.Ser721IlefsTer29
ENST00000685871.1:c.2090_2100del ENSP00000509964.1:p.Ser697IlefsTer29
ENST00000686159.1:n.2201_2211del
ENST00000686486.1:n.1332_1342del
ENST00000687302.1:n.2276_2286del
ENST00000687357.1:c.2015_2025del ENSP00000509549.1:p.Ser672IlefsTer29
ENST00000687625.1:n.1317_1327del
ENST00000687787.1:c.2321_2331del ENSP00000509440.1:p.Ser774IlefsTer29
ENST00000688201.1:n.2119_2129del
ENST00000688226.1:n.2094_2104del
ENST00000688869.1:n.2468_2478del
ENST00000689788.1:c.1956_1966del ENSP00000508973.1:n.1956_1966del
ENST00000689898.1:c.2019_2029del ENSP00000509651.1:n.2019_2029del
ENST00000690070.1:c.2246_2256del ENSP00000509654.1:p.Ser749IlefsTer29
ENST00000690267.1:c.1951_1961del ENSP00000510432.1:n.1951_1961del
ENST00000690552.1:n.2023_2033del
ENST00000691138.1:n.1951_1961del
ENST00000691969.1:c.1662_1672del ENSP00000510244.1:n.1662_1672del
ENST00000692232.1:n.3477_3487del
ENST00000692233.1:c.2026_2036del ENSP00000509698.1:n.2026_2036del
ENST00000692380.1:n.1317_1327del
ENST00000692447.1:n.3278_3288del
ENST00000693094.1:c.2162_2172del ENSP00000510161.1:p.Ser721IlefsTer29
ENST00000342694.7:c.2162_2172del MANE Select ENSP00000341083.2:p.Ser721IlefsTer29
ENST00000342694.6:c.2162_2172del ENSP00000341083.2:p.Ser721IlefsTer29
ENST00000421267.5:c.202_212del
ENST00000464810.5:n.2162_2172del
NM_003995.3:c.2162_2172del NP_003986.2:p.Ser721IlefsTer29
XM_005251478.3:c.2171_2181del XP_005251535.1:p.Ser724IlefsTer29
XM_005251479.3:c.1184_1194del XP_005251536.1:p.Ser395IlefsTer29
XM_006716778.2:c.2099_2109del XP_006716841.1:p.Ser700IlefsTer29
XM_011517889.1:c.1184_1194del XP_011516191.1:p.Ser395IlefsTer29
XM_011517890.1:c.1184_1194del XP_011516192.1:p.Ser395IlefsTer29
XM_011517891.1:c.1184_1194del XP_011516193.1:p.Ser395IlefsTer29
XM_011517892.1:c.1184_1194del XP_011516194.1:p.Ser395IlefsTer29
XM_011517893.1:c.1184_1194del XP_011516195.1:p.Ser395IlefsTer29
XM_011517894.1:c.1184_1194del XP_011516196.1:p.Ser395IlefsTer29
XM_011517895.1:c.767_777del XP_011516197.1:p.Ser256IlefsTer29
XM_024447556.1:c.2330_2340del XP_024303324.1:p.Ser777IlefsTer29
XM_024447557.1:c.2321_2331del XP_024303325.1:p.Ser774IlefsTer29
XM_024447558.1:c.1343_1353del XP_024303326.1:p.Ser448IlefsTer29
XM_024447559.1:c.926_936del XP_024303327.1:p.Ser309IlefsTer29
XM_024447560.1:c.917_927del XP_024303328.1:p.Ser306IlefsTer29
XM_024447561.1:c.758_768del XP_024303329.1:p.Ser253IlefsTer29
NM_003995.4:c.2162_2172del MANE Select NP_003986.2:p.Ser721IlefsTer29
NM_001378923.1:c.2171_2181del NP_001365852.1:p.Ser724IlefsTer29