Canonical Allele Identifier: CA412552514
Community Standard Title: NM_014927.5(CNKSR2):c.1359A>T (p.Glu453Asp)
Gene: CNKSR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21561526A>T , CM000685.2:g.21561526A>T GRCh38
NC_000023.10:g.21579644A>T , CM000685.1:g.21579644A>T GRCh37
NC_000023.9:g.21489565A>T NCBI36
NG_016266.1:g.192109A>T

Transcript Alleles

HGVS Amino-acid Change
NM_014927.5:c.1359A>T MANE Select NP_055742.2:p.Glu453Asp
ENST00000379510.5:c.1359A>T MANE Select ENSP00000368824.3:p.Glu453Asp
NM_001168647.1:c.1304-1712A>T NP_001162118.1:n.1304-1712A>T
NM_001168647.2:c.1304-1712A>T NP_001162118.1:n.1304-1712A>T
NM_001168647.3:c.1304-1712A>T NP_001162118.1:n.1304-1712A>T
NM_001168648.1:c.1359A>T NP_001162119.1:p.Glu453Asp
NM_001168648.2:c.1359A>T NP_001162119.1:p.Glu453Asp
NM_001168648.3:c.1359A>T NP_001162119.1:p.Glu453Asp
NM_001168649.1:c.1212A>T NP_001162120.1:p.Glu404Asp
NM_001168649.2:c.1212A>T NP_001162120.1:p.Glu404Asp
NM_001168649.3:c.1212A>T NP_001162120.1:p.Glu404Asp
NM_001330770.1:c.1212A>T NP_001317699.1:p.Glu404Asp
NM_001330770.2:c.1212A>T NP_001317699.1:p.Glu404Asp
NM_001330771.1:c.1157-1712A>T NP_001317700.1:n.1157-1712A>T
NM_001330771.2:c.1157-1712A>T NP_001317700.1:n.1157-1712A>T
NM_001330772.1:c.1157-1712A>T NP_001317701.1:n.1157-1712A>T
NM_001330772.2:c.1157-1712A>T NP_001317701.1:n.1157-1712A>T
NM_001330773.1:c.1304-1712A>T NP_001317702.1:n.1304-1712A>T
NM_001330773.2:c.1304-1712A>T NP_001317702.1:n.1304-1712A>T
NM_014927.3:c.1359A>T NP_055742.2:p.Glu453Asp
NM_014927.4:c.1359A>T NP_055742.2:p.Glu453Asp
ENST00000279451.8:c.1359A>T ENSP00000279451.4:p.Glu453Asp
ENST00000279451.9:c.1304-1712A>T ENSP00000279451.5:n.1304-1712A>T
ENST00000379510.3:c.1359A>T ENSP00000368824.3:p.Glu453Asp
ENST00000425654.6:c.1304-1712A>T ENSP00000397906.2:n.1304-1712A>T
ENST00000425654.7:c.1304-1712A>T ENSP00000397906.2:n.1304-1712A>T
ENST00000485012.1:n.213-1712A>T
ENST00000485012.2:n.1255-1712A>T
ENST00000543067.5:c.1212A>T ENSP00000444633.1:p.Glu404Asp
ENST00000543067.6:c.1212A>T ENSP00000444633.1:p.Glu404Asp
ENST00000642359.1:c.1359A>T ENSP00000496709.1:p.Glu453Asp
ENST00000642501.1:c.473-1712A>T ENSP00000495189.1:n.473-1712A>T
ENST00000642853.1:n.1137A>T
ENST00000643156.1:c.265A>T
ENST00000643171.1:c.1212A>T ENSP00000496186.1:p.Glu404Asp
ENST00000643220.1:c.1157-1712A>T ENSP00000495012.1:n.1157-1712A>T
ENST00000643313.1:c.546-1712A>T
ENST00000644075.1:n.725A>T
ENST00000644095.1:c.1212A>T ENSP00000496088.1:p.Glu404Asp
ENST00000644295.1:c.1212A>T ENSP00000495501.1:p.Glu404Asp
ENST00000644585.1:c.1212A>T ENSP00000495954.1:p.Glu404Asp
ENST00000645038.1:n.1873A>T
ENST00000645074.1:c.958-29046A>T ENSP00000496573.1:n.958-29046A>T
ENST00000645245.1:c.1157-1712A>T ENSP00000495695.1:n.1157-1712A>T
ENST00000645791.1:c.1157-1712A>T ENSP00000494906.1:n.1157-1712A>T
ENST00000646697.1:c.1375A>T
ENST00000647349.1:n.663A>T
ENST00000647423.1:n.1424A>T
ENST00000647532.1:n.1374-1712A>T
XM_011545471.1:c.1304-1712A>T XP_011543773.1:n.1304-1712A>T
XM_011545471.3:c.1304-1712A>T XP_011543773.1:n.1304-1712A>T
XM_011545472.1:c.1212A>T XP_011543774.1:p.Glu404Asp
XM_011545472.3:c.1212A>T XP_011543774.1:p.Glu404Asp
XM_017029358.2:c.1157-1712A>T XP_016884847.1:n.1157-1712A>T