Canonical Allele Identifier: CA412558127

Gene: CNKSR2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21609153A>C , CM000685.2:g.21609153A>C	GRCh38
NC_000023.10:g.21627271A>C , CM000685.1:g.21627271A>C	GRCh37
NC_000023.9:g.21537192A>C	NCBI36
NG_016266.1:g.239736A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014927.5:c.2228A>C MANE Select	NP_055742.2:p.Glu743Ala
ENST00000379510.5:c.2228A>C MANE Select	ENSP00000368824.3:p.Glu743Ala
NM_001168647.1:c.2138A>C	NP_001162118.1:p.Glu713Ala
NM_001168647.2:c.2138A>C	NP_001162118.1:p.Glu713Ala
NM_001168647.3:c.2138A>C	NP_001162118.1:p.Glu713Ala
NM_001168648.1:c.2228A>C	NP_001162119.1:p.Glu743Ala
NM_001168648.2:c.2228A>C	NP_001162119.1:p.Glu743Ala
NM_001168648.3:c.2228A>C	NP_001162119.1:p.Glu743Ala
NM_001168649.1:c.2081A>C	NP_001162120.1:p.Glu694Ala
NM_001168649.2:c.2081A>C	NP_001162120.1:p.Glu694Ala
NM_001168649.3:c.2081A>C	NP_001162120.1:p.Glu694Ala
NM_001330770.1:c.2081A>C	NP_001317699.1:p.Glu694Ala
NM_001330770.2:c.2081A>C	NP_001317699.1:p.Glu694Ala
NM_001330771.1:c.1991A>C	NP_001317700.1:p.Glu664Ala
NM_001330771.2:c.1991A>C	NP_001317700.1:p.Glu664Ala
NM_001330772.1:c.1991A>C	NP_001317701.1:p.Glu664Ala
NM_001330772.2:c.1991A>C	NP_001317701.1:p.Glu664Ala
NM_001330773.1:c.2138A>C	NP_001317702.1:p.Glu713Ala
NM_001330773.2:c.2138A>C	NP_001317702.1:p.Glu713Ala
NM_014927.3:c.2228A>C	NP_055742.2:p.Glu743Ala
NM_014927.4:c.2228A>C	NP_055742.2:p.Glu743Ala
ENST00000279451.8:c.2228A>C	ENSP00000279451.4:p.Glu743Ala
ENST00000279451.9:c.2138A>C	ENSP00000279451.5:p.Glu713Ala
ENST00000379510.3:c.2228A>C	ENSP00000368824.3:p.Glu743Ala
ENST00000425654.6:c.2138A>C	ENSP00000397906.2:p.Glu713Ala
ENST00000425654.7:c.2138A>C	ENSP00000397906.2:p.Glu713Ala
ENST00000543067.5:c.2081A>C	ENSP00000444633.1:p.Glu694Ala
ENST00000543067.6:c.2081A>C	ENSP00000444633.1:p.Glu694Ala
ENST00000642359.1:c.2228A>C	ENSP00000496709.1:p.Glu743Ala
ENST00000642501.1:c.1307A>C	ENSP00000495189.1:p.Glu436Ala
ENST00000642853.1:n.2006A>C
ENST00000643156.1:c.1060A>C
ENST00000643171.1:c.*175A>C	ENSP00000496186.1:n.*175A>C
ENST00000643220.1:c.1979A>C	ENSP00000495012.1:p.Glu660Ala
ENST00000643313.1:c.1380A>C
ENST00000644075.1:n.1594A>C
ENST00000644095.1:c.2081A>C	ENSP00000496088.1:p.Glu694Ala
ENST00000644295.1:c.2153A>C	ENSP00000495501.1:p.Glu718Ala
ENST00000644585.1:c.2081A>C	ENSP00000495954.1:p.Glu694Ala
ENST00000645074.1:c.1577A>C	ENSP00000496573.1:p.Glu526Ala
ENST00000645245.1:c.1991A>C	ENSP00000495695.1:p.Glu664Ala
ENST00000645539.1:n.425A>C
ENST00000645791.1:c.1991A>C	ENSP00000494906.1:p.Glu664Ala
ENST00000646690.1:n.236A>C
ENST00000646697.1:c.2244A>C
ENST00000647058.1:n.777A>C
ENST00000647349.1:n.1532A>C
ENST00000647532.1:n.5987A>C
XM_011545471.1:c.2138A>C	XP_011543773.1:p.Glu713Ala
XM_011545471.3:c.2138A>C	XP_011543773.1:p.Glu713Ala
XM_011545472.1:c.2081A>C	XP_011543774.1:p.Glu694Ala
XM_011545472.3:c.2081A>C	XP_011543774.1:p.Glu694Ala
XM_017029358.2:c.1991A>C	XP_016884847.1:p.Glu664Ala