Canonical Allele Identifier: CA515416092
Gene: CNKSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1064794022
gnomAD v2: X-21550164-C-A
gnomAD v3: X-21532046-C-A
gnomAD v4: X-21532046-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21532046C>A , CM000685.2:g.21532046C>A GRCh38
NC_000023.10:g.21550164C>A , CM000685.1:g.21550164C>A GRCh37
NC_000023.9:g.21460085C>A NCBI36
NG_016266.1:g.162629C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000279451.9:c.1282C>A ENSP00000279451.5:p.Arg428=
ENST00000379510.5:c.1282C>A MANE Select ENSP00000368824.3:p.Arg428=
ENST00000425654.7:c.1282C>A ENSP00000397906.2:p.Arg428=
ENST00000485012.2:n.1233C>A
ENST00000543067.6:c.1135C>A ENSP00000444633.1:p.Arg379=
ENST00000642359.1:c.1282C>A ENSP00000496709.1:p.Arg428=
ENST00000642460.1:n.1280C>A
ENST00000642501.1:c.451C>A ENSP00000495189.1:p.Arg151=
ENST00000643156.1:c.188C>A
ENST00000643171.1:c.1135C>A ENSP00000496186.1:p.Arg379=
ENST00000643220.1:c.1135C>A ENSP00000495012.1:p.Arg379=
ENST00000643313.1:c.524C>A
ENST00000644075.1:n.648C>A
ENST00000644095.1:c.1135C>A ENSP00000496088.1:p.Arg379=
ENST00000644295.1:c.1135C>A ENSP00000495501.1:p.Arg379=
ENST00000644585.1:c.1135C>A ENSP00000495954.1:p.Arg379=
ENST00000645038.1:n.1796C>A
ENST00000645074.1:c.957+15415C>A ENSP00000496573.1:n.957+15415C>A
ENST00000645245.1:c.1135C>A ENSP00000495695.1:p.Arg379=
ENST00000645791.1:c.1135C>A ENSP00000494906.1:p.Arg379=
ENST00000646697.1:c.1298C>A
ENST00000647349.1:n.586C>A
ENST00000647423.1:n.1347C>A
ENST00000647532.1:n.1352C>A
ENST00000279451.8:c.1282C>A ENSP00000279451.4:p.Arg428=
ENST00000379510.3:c.1282C>A ENSP00000368824.3:p.Arg428=
ENST00000425654.6:c.1282C>A ENSP00000397906.2:p.Arg428=
ENST00000485012.1:n.191C>A
ENST00000543067.5:c.1135C>A ENSP00000444633.1:p.Arg379=
NM_001168647.1:c.1282C>A NP_001162118.1:p.Arg428=
NM_001168648.1:c.1282C>A NP_001162119.1:p.Arg428=
NM_001168649.1:c.1135C>A NP_001162120.1:p.Arg379=
NM_014927.3:c.1282C>A NP_055742.2:p.Arg428=
XM_011545471.1:c.1282C>A XP_011543773.1:p.Arg428=
XM_011545472.1:c.1135C>A XP_011543774.1:p.Arg379=
NM_001168647.2:c.1282C>A NP_001162118.1:p.Arg428=
NM_001168648.2:c.1282C>A NP_001162119.1:p.Arg428=
NM_001168649.2:c.1135C>A NP_001162120.1:p.Arg379=
NM_001330770.1:c.1135C>A NP_001317699.1:p.Arg379=
NM_001330771.1:c.1135C>A NP_001317700.1:p.Arg379=
NM_001330772.1:c.1135C>A NP_001317701.1:p.Arg379=
NM_001330773.1:c.1282C>A NP_001317702.1:p.Arg428=
NM_014927.4:c.1282C>A NP_055742.2:p.Arg428=
XM_011545471.3:c.1282C>A XP_011543773.1:p.Arg428=
XM_011545472.3:c.1135C>A XP_011543774.1:p.Arg379=
XM_017029358.2:c.1135C>A XP_016884847.1:p.Arg379=
NM_014927.5:c.1282C>A MANE Select NP_055742.2:p.Arg428=
NM_001168647.3:c.1282C>A NP_001162118.1:p.Arg428=
NM_001168648.3:c.1282C>A NP_001162119.1:p.Arg428=
NM_001168649.3:c.1135C>A NP_001162120.1:p.Arg379=
NM_001330770.2:c.1135C>A NP_001317699.1:p.Arg379=
NM_001330771.2:c.1135C>A NP_001317700.1:p.Arg379=
NM_001330772.2:c.1135C>A NP_001317701.1:p.Arg379=
NM_001330773.2:c.1282C>A NP_001317702.1:p.Arg428=