Canonical Allele Identifier: CA913189029

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 920804
• ClinVar RCV Id: RCV001179811 ; RCV002249759 ; RCV003992458
• dbSNP Id: rs2052563898
• gnomAD v4: 22-28695841-T-TCCCAAAATCTTGGAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695851_28695867dup , CM000684.2:g.28695851_28695867dup	GRCh38
NC_000022.10:g.29091839_29091855dup , CM000684.1:g.29091839_29091855dup	GRCh37
NC_000022.9:g.27421839_27421855dup	NCBI36
NG_008150.1:g.50977_50993dup
NG_008150.2:g.51009_51025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-616_1009-600dup	ENSP00000518557.1:n.1009-616_1009-600dup
ENST00000402731.6:c.910_926dup	ENSP00000384835.2:p.Glu310ThrfsTer11
ENST00000404276.6:c.1111_1127dup MANE Select	ENSP00000385747.1:p.Glu377ThrfsTer11
ENST00000425190.7:c.448_464dup	ENSP00000390244.2:p.Glu156ThrfsTer11
ENST00000464581.6:c.451_467dup	ENSP00000483777.2:p.Glu157ThrfsTer11
ENST00000648295.1:n.663_679dup
ENST00000649563.1:c.448_464dup	ENSP00000496928.1:p.Glu156ThrfsTer11
ENST00000650281.1:c.1111_1127dup	ENSP00000497000.1:p.Glu377ThrfsTer11
ENST00000328354.10:c.1111_1127dup	ENSP00000329178.6:p.Glu377ThrfsTer11
ENST00000348295.7:c.1024_1040dup	ENSP00000329012.5:p.Glu348ThrfsTer11
ENST00000382580.6:c.1240_1256dup	ENSP00000372023.2:p.Glu420ThrfsTer11
ENST00000402731.5:c.1024_1040dup	ENSP00000384835.1:p.Glu348ThrfsTer11
ENST00000403642.5:c.838_854dup	ENSP00000384919.1:p.Glu286ThrfsTer11
ENST00000404276.5:c.1111_1127dup	ENSP00000385747.1:p.Glu377ThrfsTer11
ENST00000405598.5:c.1111_1127dup	ENSP00000386087.1:p.Glu377ThrfsTer11
ENST00000416671.5:c.*601_*617dup	ENSP00000402225.1:n.*601_*617dup
ENST00000417588.5:c.1020_1036dup	ENSP00000412901.1:n.1020_1036dup
ENST00000433728.5:c.1049_1065dup	ENSP00000404400.1:n.1049_1065dup
ENST00000434810.5:c.342_358dup
ENST00000448511.5:c.1001_1017dup	ENSP00000404567.1:n.1001_1017dup
ENST00000456369.5:c.263+3980_263+3996dup
NM_001005735.1:c.1240_1256dup	NP_001005735.1:p.Glu420ThrfsTer11
NM_001257387.1:c.448_464dup	NP_001244316.1:p.Glu156ThrfsTer11
NM_007194.3:c.1111_1127dup	NP_009125.1:p.Glu377ThrfsTer11
NM_145862.2:c.1024_1040dup	NP_665861.1:p.Glu348ThrfsTer11
XM_006724114.2:c.631_647dup	XP_006724177.1:p.Glu217ThrfsTer11
XM_006724116.2:c.568_584dup	XP_006724179.2:p.Glu196ThrfsTer11
XM_011529839.1:c.1270_1286dup	XP_011528141.1:p.Glu430ThrfsTer11
XM_011529840.1:c.1183_1199dup	XP_011528142.1:p.Glu401ThrfsTer11
XM_011529841.1:c.1039_1055dup	XP_011528143.1:p.Glu353ThrfsTer11
XM_011529842.1:c.940_956dup	XP_011528144.1:p.Glu320ThrfsTer11
XM_011529843.1:c.910_926dup	XP_011528145.1:p.Glu310ThrfsTer11
XM_011529845.1:c.448_464dup	XP_011528147.1:p.Glu156ThrfsTer11
XR_937805.1:n.1270_1286dup
XR_937806.1:n.1178_1194dup
NM_001349956.1:c.910_926dup	NP_001336885.1:p.Glu310ThrfsTer11
NM_007194.4:c.1111_1127dup MANE Select	NP_009125.1:p.Glu377ThrfsTer11
XM_006724114.3:c.664_680dup	XP_006724177.2:p.Glu228ThrfsTer11
XM_011529839.2:c.1270_1286dup	XP_011528141.1:p.Glu430ThrfsTer11
XM_011529840.3:c.1183_1199dup	XP_011528142.1:p.Glu401ThrfsTer11
XM_011529842.2:c.940_956dup	XP_011528144.1:p.Glu320ThrfsTer11
XM_011529845.2:c.448_464dup	XP_011528147.1:p.Glu156ThrfsTer11
XM_017028560.1:c.1234_1250dup	XP_016884049.1:p.Glu418ThrfsTer11
XM_017028561.2:c.448_464dup	XP_016884050.1:p.Glu156ThrfsTer11
XM_024452148.1:c.1141_1157dup	XP_024307916.1:p.Glu387ThrfsTer11
XM_024452149.1:c.1054_1070dup	XP_024307917.1:p.Glu358ThrfsTer11
XR_937805.2:n.1281_1297dup
XR_937806.2:n.1194_1210dup
NM_001005735.2:c.1240_1256dup	NP_001005735.1:p.Glu420ThrfsTer11
NM_001257387.2:c.448_464dup	NP_001244316.1:p.Glu156ThrfsTer11
NM_001349956.2:c.910_926dup	NP_001336885.1:p.Glu310ThrfsTer11