Canonical Allele Identifier: CA411099445

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 849853
• ClinVar RCV Id: RCV001053899
• dbSNP Id: rs2052758465
• MyVariant Identifiers: chr22:g.29095841C>G (hg19) ; chr22:g.28699853C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.902G>C	ENSP00000396903.2:n.902G>C
ENST00000711048.1:c.993G>C	ENSP00000518557.1:p.Met331Ile
ENST00000402731.6:c.792G>C	ENSP00000384835.2:p.Met264Ile
ENST00000404276.6:c.993G>C MANE Select	ENSP00000385747.1:p.Met331Ile
ENST00000425190.7:c.330G>C	ENSP00000390244.2:p.Met110Ile
ENST00000464581.6:c.333G>C	ENSP00000483777.2:p.Met111Ile
ENST00000648295.1:n.545G>C
ENST00000649563.1:c.330G>C	ENSP00000496928.1:p.Met110Ile
ENST00000650281.1:c.993G>C	ENSP00000497000.1:p.Met331Ile
ENST00000328354.10:c.993G>C	ENSP00000329178.6:p.Met331Ile
ENST00000348295.7:c.993G>C	ENSP00000329012.5:p.Met331Ile
ENST00000382580.6:c.1122G>C	ENSP00000372023.2:p.Met374Ile
ENST00000402731.5:c.993G>C	ENSP00000384835.1:p.Met331Ile
ENST00000403642.5:c.720G>C	ENSP00000384919.1:p.Met240Ile
ENST00000404276.5:c.993G>C	ENSP00000385747.1:p.Met331Ile
ENST00000405598.5:c.993G>C	ENSP00000386087.1:p.Met331Ile
ENST00000416671.5:c.*483G>C	ENSP00000402225.1:n.*483G>C
ENST00000417588.5:c.902G>C	ENSP00000412901.1:n.902G>C
ENST00000425190.6:c.330G>C	ENSP00000390244.1:p.Met110Ile
ENST00000433028.6:c.*718G>C	ENSP00000403659.1:n.*718G>C
ENST00000433728.5:c.931G>C	ENSP00000404400.1:n.931G>C
ENST00000434810.5:c.224G>C
ENST00000439346.5:c.464G>C	ENSP00000396903.1:n.464G>C
ENST00000447421.5:c.792G>C	ENSP00000397478.2:p.Met264Ile
ENST00000448511.5:c.883G>C	ENSP00000404567.1:n.883G>C
ENST00000456369.5:c.248G>C
ENST00000464581.5:c.333G>C	ENSP00000483777.1:p.Met111Ile
ENST00000491919.5:n.550G>C
NM_001005735.1:c.1122G>C	NP_001005735.1:p.Met374Ile
NM_001257387.1:c.330G>C	NP_001244316.1:p.Met110Ile
NM_007194.3:c.993G>C	NP_009125.1:p.Met331Ile
NM_145862.2:c.993G>C	NP_665861.1:p.Met331Ile
XM_006724114.2:c.513G>C	XP_006724177.1:p.Met171Ile
XM_006724116.2:c.450G>C	XP_006724179.2:p.Met150Ile
XM_011529839.1:c.1152G>C	XP_011528141.1:p.Met384Ile
XM_011529840.1:c.1152G>C	XP_011528142.1:p.Met384Ile
XM_011529841.1:c.921G>C	XP_011528143.1:p.Met307Ile
XM_011529842.1:c.822G>C	XP_011528144.1:p.Met274Ile
XM_011529843.1:c.792G>C	XP_011528145.1:p.Met264Ile
XM_011529844.1:c.1152G>C	XP_011528146.1:p.Met384Ile
XM_011529845.1:c.330G>C	XP_011528147.1:p.Met110Ile
XR_937805.1:n.1152G>C
XR_937806.1:n.1147G>C
XR_937807.1:n.1147G>C
NM_001349956.1:c.792G>C	NP_001336885.1:p.Met264Ile
NM_007194.4:c.993G>C MANE Select	NP_009125.1:p.Met331Ile
XM_006724114.3:c.546G>C	XP_006724177.2:p.Met182Ile
XM_011529839.2:c.1152G>C	XP_011528141.1:p.Met384Ile
XM_011529840.3:c.1152G>C	XP_011528142.1:p.Met384Ile
XM_011529842.2:c.822G>C	XP_011528144.1:p.Met274Ile
XM_011529844.2:c.1152G>C	XP_011528146.1:p.Met384Ile
XM_011529845.2:c.330G>C	XP_011528147.1:p.Met110Ile
XM_017028560.1:c.1116G>C	XP_016884049.1:p.Met372Ile
XM_017028561.2:c.330G>C	XP_016884050.1:p.Met110Ile
XM_024452148.1:c.1023G>C	XP_024307916.1:p.Met341Ile
XM_024452149.1:c.1023G>C	XP_024307917.1:p.Met341Ile
XR_937805.2:n.1163G>C
XR_937806.2:n.1163G>C
XR_937807.2:n.1163G>C
NM_001005735.2:c.1122G>C	NP_001005735.1:p.Met374Ile
NM_001257387.2:c.330G>C	NP_001244316.1:p.Met110Ile
NM_001349956.2:c.792G>C	NP_001336885.1:p.Met264Ile