Canonical Allele Identifier: CA2580099593

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2027470
• ClinVar RCV Id: RCV002866637

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699920dup , CM000684.2:g.28699920dup	GRCh38
NC_000022.10:g.29095908dup , CM000684.1:g.29095908dup	GRCh37
NC_000022.9:g.27425908dup	NCBI36
NG_008150.1:g.46915dup
NG_008150.2:g.46947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.835dup	ENSP00000396903.2:n.835dup
ENST00000711048.1:c.926dup	ENSP00000518557.1:p.Phe310ValfsTer2
ENST00000402731.6:c.725dup	ENSP00000384835.2:p.Phe243ValfsTer2
ENST00000404276.6:c.926dup MANE Select	ENSP00000385747.1:p.Phe310ValfsTer2
ENST00000425190.7:c.263dup	ENSP00000390244.2:p.Phe89ValfsTer2
ENST00000464581.6:c.266dup	ENSP00000483777.2:p.Phe90ValfsTer2
ENST00000648295.1:n.478dup
ENST00000649563.1:c.263dup	ENSP00000496928.1:p.Phe89ValfsTer2
ENST00000650281.1:c.926dup	ENSP00000497000.1:p.Phe310ValfsTer2
ENST00000328354.10:c.926dup	ENSP00000329178.6:p.Phe310ValfsTer2
ENST00000348295.7:c.926dup	ENSP00000329012.5:p.Phe310ValfsTer2
ENST00000382580.6:c.1055dup	ENSP00000372023.2:p.Phe353ValfsTer2
ENST00000402731.5:c.926dup	ENSP00000384835.1:p.Phe310ValfsTer2
ENST00000403642.5:c.653dup	ENSP00000384919.1:p.Phe219ValfsTer2
ENST00000404276.5:c.926dup	ENSP00000385747.1:p.Phe310ValfsTer2
ENST00000405598.5:c.926dup	ENSP00000386087.1:p.Phe310ValfsTer2
ENST00000416671.5:c.*416dup	ENSP00000402225.1:n.*416dup
ENST00000417588.5:c.835dup	ENSP00000412901.1:n.835dup
ENST00000425190.6:c.263dup	ENSP00000390244.1:p.Phe89ValfsTer2
ENST00000433028.6:c.*651dup	ENSP00000403659.1:n.*651dup
ENST00000433728.5:c.864dup	ENSP00000404400.1:p.Val289CysfsTer11
ENST00000434810.5:c.157dup
ENST00000439346.5:c.397dup	ENSP00000396903.1:n.397dup
ENST00000447421.5:c.725dup	ENSP00000397478.2:p.Phe243ValfsTer2
ENST00000448511.5:c.816dup	ENSP00000404567.1:n.816dup
ENST00000456369.5:c.181dup
ENST00000464581.5:c.266dup	ENSP00000483777.1:p.Phe90ValfsTer2
ENST00000491919.5:n.483dup
NM_001005735.1:c.1055dup	NP_001005735.1:p.Phe353ValfsTer2
NM_001257387.1:c.263dup	NP_001244316.1:p.Phe89ValfsTer2
NM_007194.3:c.926dup	NP_009125.1:p.Phe310ValfsTer2
NM_145862.2:c.926dup	NP_665861.1:p.Phe310ValfsTer2
XM_006724114.2:c.446dup	XP_006724177.1:p.Phe150ValfsTer2
XM_006724116.2:c.383dup	XP_006724179.2:p.Phe129ValfsTer2
XM_011529839.1:c.1085dup	XP_011528141.1:p.Phe363ValfsTer2
XM_011529840.1:c.1085dup	XP_011528142.1:p.Phe363ValfsTer2
XM_011529841.1:c.854dup	XP_011528143.1:p.Phe286ValfsTer2
XM_011529842.1:c.755dup	XP_011528144.1:p.Phe253ValfsTer2
XM_011529843.1:c.725dup	XP_011528145.1:p.Phe243ValfsTer2
XM_011529844.1:c.1085dup	XP_011528146.1:p.Phe363ValfsTer2
XM_011529845.1:c.263dup	XP_011528147.1:p.Phe89ValfsTer2
XR_937805.1:n.1085dup
XR_937806.1:n.1080dup
XR_937807.1:n.1080dup
NM_001349956.1:c.725dup	NP_001336885.1:p.Phe243ValfsTer2
NM_007194.4:c.926dup MANE Select	NP_009125.1:p.Phe310ValfsTer2
XM_006724114.3:c.479dup	XP_006724177.2:p.Phe161ValfsTer2
XM_011529839.2:c.1085dup	XP_011528141.1:p.Phe363ValfsTer2
XM_011529840.3:c.1085dup	XP_011528142.1:p.Phe363ValfsTer2
XM_011529842.2:c.755dup	XP_011528144.1:p.Phe253ValfsTer2
XM_011529844.2:c.1085dup	XP_011528146.1:p.Phe363ValfsTer2
XM_011529845.2:c.263dup	XP_011528147.1:p.Phe89ValfsTer2
XM_017028560.1:c.1049dup	XP_016884049.1:p.Phe351ValfsTer2
XM_017028561.2:c.263dup	XP_016884050.1:p.Phe89ValfsTer2
XM_024452148.1:c.956dup	XP_024307916.1:p.Phe320ValfsTer2
XM_024452149.1:c.956dup	XP_024307917.1:p.Phe320ValfsTer2
XR_937805.2:n.1096dup
XR_937806.2:n.1096dup
XR_937807.2:n.1096dup
NM_001005735.2:c.1055dup	NP_001005735.1:p.Phe353ValfsTer2
NM_001257387.2:c.263dup	NP_001244316.1:p.Phe89ValfsTer2
NM_001349956.2:c.725dup	NP_001336885.1:p.Phe243ValfsTer2