Canonical Allele Identifier: CA299109
Community Standard Title: NM_007194.4(CHEK2):c.1368dup (p.Glu457ArgfsTer?)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695134dup , CM000684.2:g.28695134dup GRCh38
NC_000022.10:g.29091122dup , CM000684.1:g.29091122dup GRCh37
NC_000022.9:g.27421122dup NCBI36
NG_008150.1:g.51701dup
NG_008150.2:g.51733dup

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1368dup MANE Select NP_009125.1:p.Glu457ArgfsTer?
ENST00000404276.6:c.1368dup MANE Select ENSP00000385747.1:p.Glu457ArgfsTer?
NM_001005735.1:c.1497dup NP_001005735.1:p.Glu500ArgfsTer?
NM_001005735.2:c.1497dup NP_001005735.1:p.Glu500ArgfsTer?
NM_001257387.1:c.705dup NP_001244316.1:p.Glu236ArgfsTer?
NM_001257387.2:c.705dup NP_001244316.1:p.Glu236ArgfsTer?
NM_001349956.1:c.1167dup NP_001336885.1:p.Glu390ArgfsTer?
NM_001349956.2:c.1167dup NP_001336885.1:p.Glu390ArgfsTer?
NM_007194.3:c.1368dup NP_009125.1:p.Glu457ArgfsTer?
NM_145862.2:c.1281dup NP_665861.1:p.Glu428ArgfsTer?
ENST00000328354.10:c.1368dup ENSP00000329178.6:p.Glu457ArgfsTer?
ENST00000348295.7:c.1281dup ENSP00000329012.5:p.Glu428ArgfsTer?
ENST00000382580.6:c.1497dup ENSP00000372023.2:p.Glu500ArgfsTer?
ENST00000402731.5:c.1281dup ENSP00000384835.1:p.Glu428ArgfsTer?
ENST00000402731.6:c.1167dup ENSP00000384835.2:p.Glu390ArgfsTer?
ENST00000403642.5:c.1095dup ENSP00000384919.1:p.Glu366ArgfsTer?
ENST00000404276.5:c.1368dup ENSP00000385747.1:p.Glu457ArgfsTer?
ENST00000405598.5:c.1368dup ENSP00000386087.1:p.Glu457ArgfsTer?
ENST00000416671.5:c.*858dup ENSP00000402225.1:n.*858dup
ENST00000417588.5:c.1277dup ENSP00000412901.1:n.1277dup
ENST00000425190.7:c.705dup ENSP00000390244.2:p.Glu236ArgfsTer?
ENST00000433728.5:c.1306dup ENSP00000404400.1:n.1306dup
ENST00000434810.5:c.566dup
ENST00000448511.5:c.1258dup ENSP00000404567.1:n.1258dup
ENST00000456369.5:c.263+4704dup
ENST00000464581.6:c.708dup ENSP00000483777.2:p.Glu237ArgfsTer?
ENST00000648295.1:n.920dup
ENST00000649563.1:c.705dup ENSP00000496928.1:p.Glu236ArgfsTer?
ENST00000650281.1:c.1368dup ENSP00000497000.1:p.Glu457ArgfsTer?
ENST00000711048.1:c.*103dup ENSP00000518557.1:n.*103dup
XM_006724114.2:c.888dup XP_006724177.1:p.Glu297ArgfsTer?
XM_006724114.3:c.921dup XP_006724177.2:p.Glu308ArgfsTer?
XM_006724116.2:c.825dup XP_006724179.2:p.Glu276ArgfsTer?
XM_011529839.1:c.1527dup XP_011528141.1:p.Glu510ArgfsTer?
XM_011529839.2:c.1527dup XP_011528141.1:p.Glu510ArgfsTer?
XM_011529840.1:c.1440dup XP_011528142.1:p.Glu481ArgfsTer?
XM_011529840.3:c.1440dup XP_011528142.1:p.Glu481ArgfsTer?
XM_011529841.1:c.1296dup XP_011528143.1:p.Glu433ArgfsTer?
XM_011529842.1:c.1197dup XP_011528144.1:p.Glu400ArgfsTer?
XM_011529842.2:c.1197dup XP_011528144.1:p.Glu400ArgfsTer?
XM_011529843.1:c.1167dup XP_011528145.1:p.Glu390ArgfsTer?
XM_011529845.1:c.705dup XP_011528147.1:p.Glu236ArgfsTer?
XM_011529845.2:c.705dup XP_011528147.1:p.Glu236ArgfsTer?
XM_017028560.1:c.1491dup XP_016884049.1:p.Glu498ArgfsTer?
XM_017028561.2:c.705dup XP_016884050.1:p.Glu236ArgfsTer?
XM_024452148.1:c.1398dup XP_024307916.1:p.Glu467ArgfsTer?
XM_024452149.1:c.1311dup XP_024307917.1:p.Glu438ArgfsTer?
XR_937805.1:n.1527dup
XR_937805.2:n.1538dup