Canonical Allele Identifier: CA5051973
Community Standard Title: NM_003995.4(NPR2):c.2460A>C (p.Thr820=)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35806479A>C , CM000671.2:g.35806479A>C GRCh38
NC_000009.11:g.35806476A>C , CM000671.1:g.35806476A>C GRCh37
NC_000009.10:g.35796476A>C NCBI36
NG_009249.1:g.19071A>C
NG_047141.1:g.10794T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2460A>C MANE Select NP_003986.2:p.Thr820=
ENST00000342694.7:c.2460A>C MANE Select ENSP00000341083.2:p.Thr820=
NM_001378923.1:c.2469A>C NP_001365852.1:p.Thr823=
NM_003995.3:c.2460A>C NP_003986.2:p.Thr820=
ENST00000342694.6:c.2460A>C ENSP00000341083.2:p.Thr820=
ENST00000421267.5:c.500A>C
ENST00000421267.6:c.500A>C
ENST00000447210.5:c.237A>C ENSP00000393029.1:p.Thr79=
ENST00000448821.6:c.2460A>C ENSP00000402902.2:p.Thr820=
ENST00000464810.5:n.2460A>C
ENST00000685871.1:c.2388A>C ENSP00000509964.1:p.Thr796=
ENST00000686159.1:n.2499A>C
ENST00000686486.1:n.1630A>C
ENST00000687302.1:n.2574A>C
ENST00000687357.1:c.2313A>C ENSP00000509549.1:p.Thr771=
ENST00000687625.1:n.1615A>C
ENST00000687787.1:c.2619A>C ENSP00000509440.1:p.Thr873=
ENST00000688201.1:n.2417A>C
ENST00000688226.1:n.2392A>C
ENST00000688869.1:n.2766A>C
ENST00000689788.1:c.2254A>C ENSP00000508973.1:n.2254A>C
ENST00000689898.1:c.2317A>C ENSP00000509651.1:n.2317A>C
ENST00000690070.1:c.2544A>C ENSP00000509654.1:p.Thr848=
ENST00000690267.1:c.2249A>C ENSP00000510432.1:n.2249A>C
ENST00000690552.1:n.2321A>C
ENST00000691138.1:n.2249A>C
ENST00000691969.1:c.1960A>C ENSP00000510244.1:n.1960A>C
ENST00000692232.1:n.3775A>C
ENST00000692233.1:c.2324A>C ENSP00000509698.1:n.2324A>C
ENST00000692380.1:n.1615A>C
ENST00000692447.1:n.3576A>C
ENST00000693094.1:c.2460A>C ENSP00000510161.1:p.Thr820=
XM_005251478.3:c.2469A>C XP_005251535.1:p.Thr823=
XM_005251479.3:c.1482A>C XP_005251536.1:p.Thr494=
XM_006716778.2:c.2397A>C XP_006716841.1:p.Thr799=
XM_011517889.1:c.1482A>C XP_011516191.1:p.Thr494=
XM_011517890.1:c.1482A>C XP_011516192.1:p.Thr494=
XM_011517891.1:c.1482A>C XP_011516193.1:p.Thr494=
XM_011517892.1:c.1482A>C XP_011516194.1:p.Thr494=
XM_011517893.1:c.1482A>C XP_011516195.1:p.Thr494=
XM_011517894.1:c.1482A>C XP_011516196.1:p.Thr494=
XM_011517895.1:c.1065A>C XP_011516197.1:p.Thr355=
XM_024447556.1:c.2628A>C XP_024303324.1:p.Thr876=
XM_024447557.1:c.2619A>C XP_024303325.1:p.Thr873=
XM_024447558.1:c.1641A>C XP_024303326.1:p.Thr547=
XM_024447559.1:c.1224A>C XP_024303327.1:p.Thr408=
XM_024447560.1:c.1215A>C XP_024303328.1:p.Thr405=
XM_024447561.1:c.1056A>C XP_024303329.1:p.Thr352=