Canonical Allele Identifier: CA373374100
Community Standard Title: NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35802272G>T , CM000671.2:g.35802272G>T GRCh38
NC_000009.11:g.35802269G>T , CM000671.1:g.35802269G>T GRCh37
NC_000009.10:g.35792269G>T NCBI36
NG_009249.1:g.14864G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.1699G>T MANE Select NP_003986.2:p.Glu567Ter
ENST00000342694.7:c.1699G>T MANE Select ENSP00000341083.2:p.Glu567Ter
NM_001378923.1:c.1708G>T NP_001365852.1:p.Glu570Ter
NM_003995.3:c.1699G>T NP_003986.2:p.Glu567Ter
ENST00000342694.6:c.1699G>T ENSP00000341083.2:p.Glu567Ter
ENST00000448821.6:c.1699G>T ENSP00000402902.2:p.Glu567Ter
ENST00000464810.5:n.1699G>T
ENST00000685871.1:c.1699G>T ENSP00000509964.1:p.Glu567Ter
ENST00000686159.1:n.1738G>T
ENST00000686486.1:n.869G>T
ENST00000687302.1:n.1785G>T
ENST00000687357.1:c.1624G>T ENSP00000509549.1:p.Glu542Ter
ENST00000687625.1:n.854G>T
ENST00000687787.1:c.1699G>T ENSP00000509440.1:p.Glu567Ter
ENST00000688201.1:n.1656G>T
ENST00000688226.1:n.1631G>T
ENST00000688869.1:n.2005G>T
ENST00000689788.1:c.1493G>T ENSP00000508973.1:n.1493G>T
ENST00000689898.1:c.1628G>T ENSP00000509651.1:n.1628G>T
ENST00000690070.1:c.1624G>T ENSP00000509654.1:p.Glu542Ter
ENST00000690267.1:c.1488G>T ENSP00000510432.1:n.1488G>T
ENST00000690552.1:n.1560G>T
ENST00000691138.1:n.1560G>T
ENST00000691969.1:c.1199G>T ENSP00000510244.1:n.1199G>T
ENST00000692232.1:n.2855G>T
ENST00000692233.1:c.1563G>T ENSP00000509698.1:n.1563G>T
ENST00000692380.1:n.854G>T
ENST00000692447.1:n.2815G>T
ENST00000693094.1:c.1699G>T ENSP00000510161.1:p.Glu567Ter
XM_005251478.3:c.1708G>T XP_005251535.1:p.Glu570Ter
XM_005251479.3:c.721G>T XP_005251536.1:p.Glu241Ter
XM_006716778.2:c.1708G>T XP_006716841.1:p.Glu570Ter
XM_011517889.1:c.721G>T XP_011516191.1:p.Glu241Ter
XM_011517890.1:c.721G>T XP_011516192.1:p.Glu241Ter
XM_011517891.1:c.721G>T XP_011516193.1:p.Glu241Ter
XM_011517892.1:c.721G>T XP_011516194.1:p.Glu241Ter
XM_011517893.1:c.721G>T XP_011516195.1:p.Glu241Ter
XM_011517894.1:c.721G>T XP_011516196.1:p.Glu241Ter
XM_011517895.1:c.304G>T XP_011516197.1:p.Glu102Ter
XM_024447556.1:c.1708G>T XP_024303324.1:p.Glu570Ter
XM_024447557.1:c.1699G>T XP_024303325.1:p.Glu567Ter
XM_024447558.1:c.721G>T XP_024303326.1:p.Glu241Ter
XM_024447559.1:c.304G>T XP_024303327.1:p.Glu102Ter
XM_024447560.1:c.295G>T XP_024303328.1:p.Glu99Ter
XM_024447561.1:c.295G>T XP_024303329.1:p.Glu99Ter