Canonical Allele Identifier: CA411099448

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 491659
• ClinVar RCV Id: RCV003500579
• dbSNP Id: rs1555915352
• gnomAD v4: 22-28699854-A-G
• COSMIC: COSM1201033
• MyVariant Identifiers: chr22:g.29095842A>G (hg19) ; chr22:g.28699854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699854A>G , CM000684.2:g.28699854A>G	GRCh38
NC_000022.10:g.29095842A>G , CM000684.1:g.29095842A>G	GRCh37
NC_000022.9:g.27425842A>G	NCBI36
NG_008150.1:g.46981T>C
NG_008150.2:g.47013T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.901T>C	ENSP00000396903.2:n.901T>C
ENST00000711048.1:c.992T>C	ENSP00000518557.1:p.Met331Thr
ENST00000402731.6:c.791T>C	ENSP00000384835.2:p.Met264Thr
ENST00000404276.6:c.992T>C MANE Select	ENSP00000385747.1:p.Met331Thr
ENST00000425190.7:c.329T>C	ENSP00000390244.2:p.Met110Thr
ENST00000464581.6:c.332T>C	ENSP00000483777.2:p.Met111Thr
ENST00000648295.1:n.544T>C
ENST00000649563.1:c.329T>C	ENSP00000496928.1:p.Met110Thr
ENST00000650281.1:c.992T>C	ENSP00000497000.1:p.Met331Thr
ENST00000328354.10:c.992T>C	ENSP00000329178.6:p.Met331Thr
ENST00000348295.7:c.992T>C	ENSP00000329012.5:p.Met331Thr
ENST00000382580.6:c.1121T>C	ENSP00000372023.2:p.Met374Thr
ENST00000402731.5:c.992T>C	ENSP00000384835.1:p.Met331Thr
ENST00000403642.5:c.719T>C	ENSP00000384919.1:p.Met240Thr
ENST00000404276.5:c.992T>C	ENSP00000385747.1:p.Met331Thr
ENST00000405598.5:c.992T>C	ENSP00000386087.1:p.Met331Thr
ENST00000416671.5:c.*482T>C	ENSP00000402225.1:n.*482T>C
ENST00000417588.5:c.901T>C	ENSP00000412901.1:n.901T>C
ENST00000425190.6:c.329T>C	ENSP00000390244.1:p.Met110Thr
ENST00000433028.6:c.*717T>C	ENSP00000403659.1:n.*717T>C
ENST00000433728.5:c.930T>C	ENSP00000404400.1:n.930T>C
ENST00000434810.5:c.223T>C
ENST00000439346.5:c.463T>C	ENSP00000396903.1:n.463T>C
ENST00000447421.5:c.791T>C	ENSP00000397478.2:p.Met264Thr
ENST00000448511.5:c.882T>C	ENSP00000404567.1:n.882T>C
ENST00000456369.5:c.247T>C
ENST00000464581.5:c.332T>C	ENSP00000483777.1:p.Met111Thr
ENST00000491919.5:n.549T>C
NM_001005735.1:c.1121T>C	NP_001005735.1:p.Met374Thr
NM_001257387.1:c.329T>C	NP_001244316.1:p.Met110Thr
NM_007194.3:c.992T>C	NP_009125.1:p.Met331Thr
NM_145862.2:c.992T>C	NP_665861.1:p.Met331Thr
XM_006724114.2:c.512T>C	XP_006724177.1:p.Met171Thr
XM_006724116.2:c.449T>C	XP_006724179.2:p.Met150Thr
XM_011529839.1:c.1151T>C	XP_011528141.1:p.Met384Thr
XM_011529840.1:c.1151T>C	XP_011528142.1:p.Met384Thr
XM_011529841.1:c.920T>C	XP_011528143.1:p.Met307Thr
XM_011529842.1:c.821T>C	XP_011528144.1:p.Met274Thr
XM_011529843.1:c.791T>C	XP_011528145.1:p.Met264Thr
XM_011529844.1:c.1151T>C	XP_011528146.1:p.Met384Thr
XM_011529845.1:c.329T>C	XP_011528147.1:p.Met110Thr
XR_937805.1:n.1151T>C
XR_937806.1:n.1146T>C
XR_937807.1:n.1146T>C
NM_001349956.1:c.791T>C	NP_001336885.1:p.Met264Thr
NM_007194.4:c.992T>C MANE Select	NP_009125.1:p.Met331Thr
XM_006724114.3:c.545T>C	XP_006724177.2:p.Met182Thr
XM_011529839.2:c.1151T>C	XP_011528141.1:p.Met384Thr
XM_011529840.3:c.1151T>C	XP_011528142.1:p.Met384Thr
XM_011529842.2:c.821T>C	XP_011528144.1:p.Met274Thr
XM_011529844.2:c.1151T>C	XP_011528146.1:p.Met384Thr
XM_011529845.2:c.329T>C	XP_011528147.1:p.Met110Thr
XM_017028560.1:c.1115T>C	XP_016884049.1:p.Met372Thr
XM_017028561.2:c.329T>C	XP_016884050.1:p.Met110Thr
XM_024452148.1:c.1022T>C	XP_024307916.1:p.Met341Thr
XM_024452149.1:c.1022T>C	XP_024307917.1:p.Met341Thr
XR_937805.2:n.1162T>C
XR_937806.2:n.1162T>C
XR_937807.2:n.1162T>C
NM_001005735.2:c.1121T>C	NP_001005735.1:p.Met374Thr
NM_001257387.2:c.329T>C	NP_001244316.1:p.Met110Thr
NM_001349956.2:c.791T>C	NP_001336885.1:p.Met264Thr