Canonical Allele Identifier: CA373378179
Community Standard Title: NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser)
Gene: NPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35805847C>T , CM000671.2:g.35805847C>T GRCh38
NC_000009.11:g.35805844C>T , CM000671.1:g.35805844C>T GRCh37
NC_000009.10:g.35795844C>T NCBI36
NG_009249.1:g.18439C>T
NG_047141.1:g.11426G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003995.4:c.2065C>T MANE Select NP_003986.2:p.Pro689Ser
ENST00000342694.7:c.2065C>T MANE Select ENSP00000341083.2:p.Pro689Ser
NM_001378923.1:c.2074C>T NP_001365852.1:p.Pro692Ser
NM_003995.3:c.2065C>T NP_003986.2:p.Pro689Ser
ENST00000342694.6:c.2065C>T ENSP00000341083.2:p.Pro689Ser
ENST00000421267.5:c.142-37C>T
ENST00000421267.6:c.142-37C>T
ENST00000448821.6:c.2065C>T ENSP00000402902.2:p.Pro689Ser
ENST00000464810.5:n.2065C>T
ENST00000685871.1:c.1993C>T ENSP00000509964.1:p.Pro665Ser
ENST00000686159.1:n.2104C>T
ENST00000686486.1:n.1235C>T
ENST00000687302.1:n.2179C>T
ENST00000687357.1:c.1918C>T ENSP00000509549.1:p.Pro640Ser
ENST00000687625.1:n.1220C>T
ENST00000687787.1:c.2224C>T ENSP00000509440.1:p.Pro742Ser
ENST00000688201.1:n.2022C>T
ENST00000688226.1:n.1997C>T
ENST00000688869.1:n.2371C>T
ENST00000689788.1:c.1859C>T ENSP00000508973.1:n.1859C>T
ENST00000689898.1:c.1922C>T ENSP00000509651.1:n.1922C>T
ENST00000690070.1:c.2149C>T ENSP00000509654.1:p.Pro717Ser
ENST00000690267.1:c.1854C>T ENSP00000510432.1:n.1854C>T
ENST00000690552.1:n.1926C>T
ENST00000691138.1:n.1854C>T
ENST00000691969.1:c.1565C>T ENSP00000510244.1:n.1565C>T
ENST00000692232.1:n.3380C>T
ENST00000692233.1:c.1929C>T ENSP00000509698.1:n.1929C>T
ENST00000692380.1:n.1220C>T
ENST00000692447.1:n.3181C>T
ENST00000693094.1:c.2065C>T ENSP00000510161.1:p.Pro689Ser
XM_005251478.3:c.2074C>T XP_005251535.1:p.Pro692Ser
XM_005251479.3:c.1087C>T XP_005251536.1:p.Pro363Ser
XM_006716778.2:c.2002C>T XP_006716841.1:p.Pro668Ser
XM_011517889.1:c.1087C>T XP_011516191.1:p.Pro363Ser
XM_011517890.1:c.1087C>T XP_011516192.1:p.Pro363Ser
XM_011517891.1:c.1087C>T XP_011516193.1:p.Pro363Ser
XM_011517892.1:c.1087C>T XP_011516194.1:p.Pro363Ser
XM_011517893.1:c.1087C>T XP_011516195.1:p.Pro363Ser
XM_011517894.1:c.1087C>T XP_011516196.1:p.Pro363Ser
XM_011517895.1:c.670C>T XP_011516197.1:p.Pro224Ser
XM_024447556.1:c.2233C>T XP_024303324.1:p.Pro745Ser
XM_024447557.1:c.2224C>T XP_024303325.1:p.Pro742Ser
XM_024447558.1:c.1246C>T XP_024303326.1:p.Pro416Ser
XM_024447559.1:c.829C>T XP_024303327.1:p.Pro277Ser
XM_024447560.1:c.820C>T XP_024303328.1:p.Pro274Ser
XM_024447561.1:c.661C>T XP_024303329.1:p.Pro221Ser