Canonical Allele Identifier: CA411099893

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 643582
• ClinVar RCV Id: RCV000797315 ; RCV004027590
• dbSNP Id: rs1601738869
• MyVariant Identifiers: chr22:g.29095884T>C (hg19) ; chr22:g.28699896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699896T>C , CM000684.2:g.28699896T>C	GRCh38
NC_000022.10:g.29095884T>C , CM000684.1:g.29095884T>C	GRCh37
NC_000022.9:g.27425884T>C	NCBI36
NG_008150.1:g.46939A>G
NG_008150.2:g.46971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.859A>G	ENSP00000396903.2:n.859A>G
ENST00000711048.1:c.950A>G	ENSP00000518557.1:p.Lys317Arg
ENST00000402731.6:c.749A>G	ENSP00000384835.2:p.Lys250Arg
ENST00000404276.6:c.950A>G MANE Select	ENSP00000385747.1:p.Lys317Arg
ENST00000425190.7:c.287A>G	ENSP00000390244.2:p.Lys96Arg
ENST00000464581.6:c.290A>G	ENSP00000483777.2:p.Lys97Arg
ENST00000648295.1:n.502A>G
ENST00000649563.1:c.287A>G	ENSP00000496928.1:p.Lys96Arg
ENST00000650281.1:c.950A>G	ENSP00000497000.1:p.Lys317Arg
ENST00000328354.10:c.950A>G	ENSP00000329178.6:p.Lys317Arg
ENST00000348295.7:c.950A>G	ENSP00000329012.5:p.Lys317Arg
ENST00000382580.6:c.1079A>G	ENSP00000372023.2:p.Lys360Arg
ENST00000402731.5:c.950A>G	ENSP00000384835.1:p.Lys317Arg
ENST00000403642.5:c.677A>G	ENSP00000384919.1:p.Lys226Arg
ENST00000404276.5:c.950A>G	ENSP00000385747.1:p.Lys317Arg
ENST00000405598.5:c.950A>G	ENSP00000386087.1:p.Lys317Arg
ENST00000416671.5:c.*440A>G	ENSP00000402225.1:n.*440A>G
ENST00000417588.5:c.859A>G	ENSP00000412901.1:n.859A>G
ENST00000425190.6:c.287A>G	ENSP00000390244.1:p.Lys96Arg
ENST00000433028.6:c.*675A>G	ENSP00000403659.1:n.*675A>G
ENST00000433728.5:c.888A>G	ENSP00000404400.1:n.888A>G
ENST00000434810.5:c.181A>G
ENST00000439346.5:c.421A>G	ENSP00000396903.1:n.421A>G
ENST00000447421.5:c.749A>G	ENSP00000397478.2:p.Lys250Arg
ENST00000448511.5:c.840A>G	ENSP00000404567.1:n.840A>G
ENST00000456369.5:c.205A>G
ENST00000464581.5:c.290A>G	ENSP00000483777.1:p.Lys97Arg
ENST00000491919.5:n.507A>G
NM_001005735.1:c.1079A>G	NP_001005735.1:p.Lys360Arg
NM_001257387.1:c.287A>G	NP_001244316.1:p.Lys96Arg
NM_007194.3:c.950A>G	NP_009125.1:p.Lys317Arg
NM_145862.2:c.950A>G	NP_665861.1:p.Lys317Arg
XM_006724114.2:c.470A>G	XP_006724177.1:p.Lys157Arg
XM_006724116.2:c.407A>G	XP_006724179.2:p.Lys136Arg
XM_011529839.1:c.1109A>G	XP_011528141.1:p.Lys370Arg
XM_011529840.1:c.1109A>G	XP_011528142.1:p.Lys370Arg
XM_011529841.1:c.878A>G	XP_011528143.1:p.Lys293Arg
XM_011529842.1:c.779A>G	XP_011528144.1:p.Lys260Arg
XM_011529843.1:c.749A>G	XP_011528145.1:p.Lys250Arg
XM_011529844.1:c.1109A>G	XP_011528146.1:p.Lys370Arg
XM_011529845.1:c.287A>G	XP_011528147.1:p.Lys96Arg
XR_937805.1:n.1109A>G
XR_937806.1:n.1104A>G
XR_937807.1:n.1104A>G
NM_001349956.1:c.749A>G	NP_001336885.1:p.Lys250Arg
NM_007194.4:c.950A>G MANE Select	NP_009125.1:p.Lys317Arg
XM_006724114.3:c.503A>G	XP_006724177.2:p.Lys168Arg
XM_011529839.2:c.1109A>G	XP_011528141.1:p.Lys370Arg
XM_011529840.3:c.1109A>G	XP_011528142.1:p.Lys370Arg
XM_011529842.2:c.779A>G	XP_011528144.1:p.Lys260Arg
XM_011529844.2:c.1109A>G	XP_011528146.1:p.Lys370Arg
XM_011529845.2:c.287A>G	XP_011528147.1:p.Lys96Arg
XM_017028560.1:c.1073A>G	XP_016884049.1:p.Lys358Arg
XM_017028561.2:c.287A>G	XP_016884050.1:p.Lys96Arg
XM_024452148.1:c.980A>G	XP_024307916.1:p.Lys327Arg
XM_024452149.1:c.980A>G	XP_024307917.1:p.Lys327Arg
XR_937805.2:n.1120A>G
XR_937806.2:n.1120A>G
XR_937807.2:n.1120A>G
NM_001005735.2:c.1079A>G	NP_001005735.1:p.Lys360Arg
NM_001257387.2:c.287A>G	NP_001244316.1:p.Lys96Arg
NM_001349956.2:c.749A>G	NP_001336885.1:p.Lys250Arg