Canonical Allele Identifier: CA2695230582

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695817dup , CM000684.2:g.28695817dup	GRCh38
NC_000022.10:g.29091805dup , CM000684.1:g.29091805dup	GRCh37
NC_000022.9:g.27421805dup	NCBI36
NG_008150.1:g.51018dup
NG_008150.2:g.51050dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-575dup	ENSP00000518557.1:n.1009-575dup
ENST00000402731.6:c.951dup	ENSP00000384835.2:p.Cys318MetfsTer10
ENST00000404276.6:c.1152dup MANE Select	ENSP00000385747.1:p.Cys385MetfsTer10
ENST00000425190.7:c.489dup	ENSP00000390244.2:p.Cys164MetfsTer10
ENST00000464581.6:c.492dup	ENSP00000483777.2:p.Cys165MetfsTer10
ENST00000648295.1:n.704dup
ENST00000649563.1:c.489dup	ENSP00000496928.1:p.Cys164MetfsTer10
ENST00000650281.1:c.1152dup	ENSP00000497000.1:p.Cys385MetfsTer10
ENST00000328354.10:c.1152dup	ENSP00000329178.6:p.Cys385MetfsTer10
ENST00000348295.7:c.1065dup	ENSP00000329012.5:p.Cys356MetfsTer10
ENST00000382580.6:c.1281dup	ENSP00000372023.2:p.Cys428MetfsTer10
ENST00000402731.5:c.1065dup	ENSP00000384835.1:p.Cys356MetfsTer10
ENST00000403642.5:c.879dup	ENSP00000384919.1:p.Cys294MetfsTer10
ENST00000404276.5:c.1152dup	ENSP00000385747.1:p.Cys385MetfsTer10
ENST00000405598.5:c.1152dup	ENSP00000386087.1:p.Cys385MetfsTer10
ENST00000416671.5:c.*642dup	ENSP00000402225.1:n.*642dup
ENST00000417588.5:c.1061dup	ENSP00000412901.1:n.1061dup
ENST00000433728.5:c.1090dup	ENSP00000404400.1:n.1090dup
ENST00000434810.5:c.383dup
ENST00000448511.5:c.1042dup	ENSP00000404567.1:n.1042dup
ENST00000456369.5:c.263+4021dup
NM_001005735.1:c.1281dup	NP_001005735.1:p.Cys428MetfsTer10
NM_001257387.1:c.489dup	NP_001244316.1:p.Cys164MetfsTer10
NM_007194.3:c.1152dup	NP_009125.1:p.Cys385MetfsTer10
NM_145862.2:c.1065dup	NP_665861.1:p.Cys356MetfsTer10
XM_006724114.2:c.672dup	XP_006724177.1:p.Cys225MetfsTer10
XM_006724116.2:c.609dup	XP_006724179.2:p.Cys204MetfsTer10
XM_011529839.1:c.1311dup	XP_011528141.1:p.Cys438MetfsTer10
XM_011529840.1:c.1224dup	XP_011528142.1:p.Cys409MetfsTer10
XM_011529841.1:c.1080dup	XP_011528143.1:p.Cys361MetfsTer10
XM_011529842.1:c.981dup	XP_011528144.1:p.Cys328MetfsTer10
XM_011529843.1:c.951dup	XP_011528145.1:p.Cys318MetfsTer10
XM_011529845.1:c.489dup	XP_011528147.1:p.Cys164MetfsTer10
XR_937805.1:n.1311dup
XR_937806.1:n.1219dup
NM_001349956.1:c.951dup	NP_001336885.1:p.Cys318MetfsTer10
NM_007194.4:c.1152dup MANE Select	NP_009125.1:p.Cys385MetfsTer10
XM_006724114.3:c.705dup	XP_006724177.2:p.Cys236MetfsTer10
XM_011529839.2:c.1311dup	XP_011528141.1:p.Cys438MetfsTer10
XM_011529840.3:c.1224dup	XP_011528142.1:p.Cys409MetfsTer10
XM_011529842.2:c.981dup	XP_011528144.1:p.Cys328MetfsTer10
XM_011529845.2:c.489dup	XP_011528147.1:p.Cys164MetfsTer10
XM_017028560.1:c.1275dup	XP_016884049.1:p.Cys426MetfsTer10
XM_017028561.2:c.489dup	XP_016884050.1:p.Cys164MetfsTer10
XM_024452148.1:c.1182dup	XP_024307916.1:p.Cys395MetfsTer10
XM_024452149.1:c.1095dup	XP_024307917.1:p.Cys366MetfsTer10
XR_937805.2:n.1322dup
XR_937806.2:n.1235dup
NM_001005735.2:c.1281dup	NP_001005735.1:p.Cys428MetfsTer10
NM_001257387.2:c.489dup	NP_001244316.1:p.Cys164MetfsTer10
NM_001349956.2:c.951dup	NP_001336885.1:p.Cys318MetfsTer10