Canonical Allele Identifier: CA411100012

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 957042
• ClinVar RCV Id: RCV001229953
• dbSNP Id: rs1157311218
• gnomAD v4: 22-28699911-T-G
• COSMIC: COSM5046278
• MyVariant Identifiers: chr22:g.29095899T>G (hg19) ; chr22:g.28699911T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699911T>G , CM000684.2:g.28699911T>G	GRCh38
NC_000022.10:g.29095899T>G , CM000684.1:g.29095899T>G	GRCh37
NC_000022.9:g.27425899T>G	NCBI36
NG_008150.1:g.46924A>C
NG_008150.2:g.46956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.844A>C	ENSP00000396903.2:n.844A>C
ENST00000711048.1:c.935A>C	ENSP00000518557.1:p.Lys312Thr
ENST00000402731.6:c.734A>C	ENSP00000384835.2:p.Lys245Thr
ENST00000404276.6:c.935A>C MANE Select	ENSP00000385747.1:p.Lys312Thr
ENST00000425190.7:c.272A>C	ENSP00000390244.2:p.Lys91Thr
ENST00000464581.6:c.275A>C	ENSP00000483777.2:p.Lys92Thr
ENST00000648295.1:n.487A>C
ENST00000649563.1:c.272A>C	ENSP00000496928.1:p.Lys91Thr
ENST00000650281.1:c.935A>C	ENSP00000497000.1:p.Lys312Thr
ENST00000328354.10:c.935A>C	ENSP00000329178.6:p.Lys312Thr
ENST00000348295.7:c.935A>C	ENSP00000329012.5:p.Lys312Thr
ENST00000382580.6:c.1064A>C	ENSP00000372023.2:p.Lys355Thr
ENST00000402731.5:c.935A>C	ENSP00000384835.1:p.Lys312Thr
ENST00000403642.5:c.662A>C	ENSP00000384919.1:p.Lys221Thr
ENST00000404276.5:c.935A>C	ENSP00000385747.1:p.Lys312Thr
ENST00000405598.5:c.935A>C	ENSP00000386087.1:p.Lys312Thr
ENST00000416671.5:c.*425A>C	ENSP00000402225.1:n.*425A>C
ENST00000417588.5:c.844A>C	ENSP00000412901.1:n.844A>C
ENST00000425190.6:c.272A>C	ENSP00000390244.1:p.Lys91Thr
ENST00000433028.6:c.*660A>C	ENSP00000403659.1:n.*660A>C
ENST00000433728.5:c.873A>C	ENSP00000404400.1:n.873A>C
ENST00000434810.5:c.166A>C
ENST00000439346.5:c.406A>C	ENSP00000396903.1:n.406A>C
ENST00000447421.5:c.734A>C	ENSP00000397478.2:p.Lys245Thr
ENST00000448511.5:c.825A>C	ENSP00000404567.1:n.825A>C
ENST00000456369.5:c.190A>C
ENST00000464581.5:c.275A>C	ENSP00000483777.1:p.Lys92Thr
ENST00000491919.5:n.492A>C
NM_001005735.1:c.1064A>C	NP_001005735.1:p.Lys355Thr
NM_001257387.1:c.272A>C	NP_001244316.1:p.Lys91Thr
NM_007194.3:c.935A>C	NP_009125.1:p.Lys312Thr
NM_145862.2:c.935A>C	NP_665861.1:p.Lys312Thr
XM_006724114.2:c.455A>C	XP_006724177.1:p.Lys152Thr
XM_006724116.2:c.392A>C	XP_006724179.2:p.Lys131Thr
XM_011529839.1:c.1094A>C	XP_011528141.1:p.Lys365Thr
XM_011529840.1:c.1094A>C	XP_011528142.1:p.Lys365Thr
XM_011529841.1:c.863A>C	XP_011528143.1:p.Lys288Thr
XM_011529842.1:c.764A>C	XP_011528144.1:p.Lys255Thr
XM_011529843.1:c.734A>C	XP_011528145.1:p.Lys245Thr
XM_011529844.1:c.1094A>C	XP_011528146.1:p.Lys365Thr
XM_011529845.1:c.272A>C	XP_011528147.1:p.Lys91Thr
XR_937805.1:n.1094A>C
XR_937806.1:n.1089A>C
XR_937807.1:n.1089A>C
NM_001349956.1:c.734A>C	NP_001336885.1:p.Lys245Thr
NM_007194.4:c.935A>C MANE Select	NP_009125.1:p.Lys312Thr
XM_006724114.3:c.488A>C	XP_006724177.2:p.Lys163Thr
XM_011529839.2:c.1094A>C	XP_011528141.1:p.Lys365Thr
XM_011529840.3:c.1094A>C	XP_011528142.1:p.Lys365Thr
XM_011529842.2:c.764A>C	XP_011528144.1:p.Lys255Thr
XM_011529844.2:c.1094A>C	XP_011528146.1:p.Lys365Thr
XM_011529845.2:c.272A>C	XP_011528147.1:p.Lys91Thr
XM_017028560.1:c.1058A>C	XP_016884049.1:p.Lys353Thr
XM_017028561.2:c.272A>C	XP_016884050.1:p.Lys91Thr
XM_024452148.1:c.965A>C	XP_024307916.1:p.Lys322Thr
XM_024452149.1:c.965A>C	XP_024307917.1:p.Lys322Thr
XR_937805.2:n.1105A>C
XR_937806.2:n.1105A>C
XR_937807.2:n.1105A>C
NM_001005735.2:c.1064A>C	NP_001005735.1:p.Lys355Thr
NM_001257387.2:c.272A>C	NP_001244316.1:p.Lys91Thr
NM_001349956.2:c.734A>C	NP_001336885.1:p.Lys245Thr