Canonical Allele Identifier: CA2582342813

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2584252
• ClinVar RCV Id: RCV003335700

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699853del , CM000684.2:g.28699853del	GRCh38
NC_000022.10:g.29095841del , CM000684.1:g.29095841del	GRCh37
NC_000022.9:g.27425841del	NCBI36
NG_008150.1:g.46982del
NG_008150.2:g.47014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.902del	ENSP00000396903.2:n.902del
ENST00000711048.1:c.993del	ENSP00000518557.1:p.Met331IlefsTer?
ENST00000402731.6:c.792del	ENSP00000384835.2:p.Met264IlefsTer18
ENST00000404276.6:c.993del MANE Select	ENSP00000385747.1:p.Met331IlefsTer18
ENST00000425190.7:c.330del	ENSP00000390244.2:p.Met110IlefsTer18
ENST00000464581.6:c.333del	ENSP00000483777.2:p.Met111IlefsTer18
ENST00000648295.1:n.545del
ENST00000649563.1:c.330del	ENSP00000496928.1:p.Met110IlefsTer18
ENST00000650281.1:c.993del	ENSP00000497000.1:p.Met331IlefsTer18
ENST00000328354.10:c.993del	ENSP00000329178.6:p.Met331IlefsTer18
ENST00000348295.7:c.993del	ENSP00000329012.5:p.Met331IlefsTer22
ENST00000382580.6:c.1122del	ENSP00000372023.2:p.Met374IlefsTer18
ENST00000402731.5:c.993del	ENSP00000384835.1:p.Met331IlefsTer22
ENST00000403642.5:c.720del	ENSP00000384919.1:p.Met240IlefsTer18
ENST00000404276.5:c.993del	ENSP00000385747.1:p.Met331IlefsTer18
ENST00000405598.5:c.993del	ENSP00000386087.1:p.Met331IlefsTer18
ENST00000416671.5:c.*483del	ENSP00000402225.1:n.*483del
ENST00000417588.5:c.902del	ENSP00000412901.1:n.902del
ENST00000425190.6:c.330del	ENSP00000390244.1:p.Met110IlefsTer?
ENST00000433028.6:c.*718del	ENSP00000403659.1:n.*718del
ENST00000433728.5:c.931del	ENSP00000404400.1:n.931del
ENST00000434810.5:c.224del
ENST00000439346.5:c.464del	ENSP00000396903.1:n.464del
ENST00000447421.5:c.792del	ENSP00000397478.2:p.Met264IlefsTer18
ENST00000448511.5:c.883del	ENSP00000404567.1:n.883del
ENST00000456369.5:c.248del
ENST00000464581.5:c.333del	ENSP00000483777.1:p.Met111IlefsTer18
ENST00000491919.5:n.550del
NM_001005735.1:c.1122del	NP_001005735.1:p.Met374IlefsTer18
NM_001257387.1:c.330del	NP_001244316.1:p.Met110IlefsTer18
NM_007194.3:c.993del	NP_009125.1:p.Met331IlefsTer18
NM_145862.2:c.993del	NP_665861.1:p.Met331IlefsTer22
XM_006724114.2:c.513del	XP_006724177.1:p.Met171IlefsTer18
XM_006724116.2:c.450del	XP_006724179.2:p.Met150IlefsTer18
XM_011529839.1:c.1152del	XP_011528141.1:p.Met384IlefsTer18
XM_011529840.1:c.1152del	XP_011528142.1:p.Met384IlefsTer22
XM_011529841.1:c.921del	XP_011528143.1:p.Met307IlefsTer18
XM_011529842.1:c.822del	XP_011528144.1:p.Met274IlefsTer18
XM_011529843.1:c.792del	XP_011528145.1:p.Met264IlefsTer18
XM_011529844.1:c.1152del	XP_011528146.1:p.Met384IlefsTer9
XM_011529845.1:c.330del	XP_011528147.1:p.Met110IlefsTer18
XR_937805.1:n.1152del
XR_937806.1:n.1147del
XR_937807.1:n.1147del
NM_001349956.1:c.792del	NP_001336885.1:p.Met264IlefsTer18
NM_007194.4:c.993del MANE Select	NP_009125.1:p.Met331IlefsTer18
XM_006724114.3:c.546del	XP_006724177.2:p.Met182IlefsTer18
XM_011529839.2:c.1152del	XP_011528141.1:p.Met384IlefsTer18
XM_011529840.3:c.1152del	XP_011528142.1:p.Met384IlefsTer22
XM_011529842.2:c.822del	XP_011528144.1:p.Met274IlefsTer18
XM_011529844.2:c.1152del	XP_011528146.1:p.Met384IlefsTer9
XM_011529845.2:c.330del	XP_011528147.1:p.Met110IlefsTer18
XM_017028560.1:c.1116del	XP_016884049.1:p.Met372IlefsTer18
XM_017028561.2:c.330del	XP_016884050.1:p.Met110IlefsTer18
XM_024452148.1:c.1023del	XP_024307916.1:p.Met341IlefsTer18
XM_024452149.1:c.1023del	XP_024307917.1:p.Met341IlefsTer22
XR_937805.2:n.1163del
XR_937806.2:n.1163del
XR_937807.2:n.1163del
NM_001005735.2:c.1122del	NP_001005735.1:p.Met374IlefsTer18
NM_001257387.2:c.330del	NP_001244316.1:p.Met110IlefsTer18
NM_001349956.2:c.792del	NP_001336885.1:p.Met264IlefsTer18