Canonical Allele Identifier: CA16616317

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 410043
• ClinVar RCV Id: RCV001186457
• dbSNP Id: rs1060502707
• gnomAD v4: 22-28695758-T-C
• COSMIC: COSM726027
• MyVariant Identifiers: chr22:g.29091746T>C (hg19) ; chr22:g.28695758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695758T>C , CM000684.2:g.28695758T>C	GRCh38
NC_000022.10:g.29091746T>C , CM000684.1:g.29091746T>C	GRCh37
NC_000022.9:g.27421746T>C	NCBI36
NG_008150.1:g.51077A>G
NG_008150.2:g.51109A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-516A>G	ENSP00000518557.1:n.1009-516A>G
ENST00000402731.6:c.1010A>G	ENSP00000384835.2:p.Tyr337Cys
ENST00000404276.6:c.1211A>G MANE Select	ENSP00000385747.1:p.Tyr404Cys
ENST00000425190.7:c.548A>G	ENSP00000390244.2:p.Tyr183Cys
ENST00000464581.6:c.551A>G	ENSP00000483777.2:p.Tyr184Cys
ENST00000648295.1:n.763A>G
ENST00000649563.1:c.548A>G	ENSP00000496928.1:p.Tyr183Cys
ENST00000650281.1:c.1211A>G	ENSP00000497000.1:p.Tyr404Cys
ENST00000328354.10:c.1211A>G	ENSP00000329178.6:p.Tyr404Cys
ENST00000348295.7:c.1124A>G	ENSP00000329012.5:p.Tyr375Cys
ENST00000382580.6:c.1340A>G	ENSP00000372023.2:p.Tyr447Cys
ENST00000402731.5:c.1124A>G	ENSP00000384835.1:p.Tyr375Cys
ENST00000403642.5:c.938A>G	ENSP00000384919.1:p.Tyr313Cys
ENST00000404276.5:c.1211A>G	ENSP00000385747.1:p.Tyr404Cys
ENST00000405598.5:c.1211A>G	ENSP00000386087.1:p.Tyr404Cys
ENST00000416671.5:c.*701A>G	ENSP00000402225.1:n.*701A>G
ENST00000417588.5:c.1120A>G	ENSP00000412901.1:n.1120A>G
ENST00000433728.5:c.1149A>G	ENSP00000404400.1:n.1149A>G
ENST00000434810.5:c.442A>G
ENST00000448511.5:c.1101A>G	ENSP00000404567.1:n.1101A>G
ENST00000456369.5:c.263+4080A>G
NM_001005735.1:c.1340A>G	NP_001005735.1:p.Tyr447Cys
NM_001257387.1:c.548A>G	NP_001244316.1:p.Tyr183Cys
NM_007194.3:c.1211A>G	NP_009125.1:p.Tyr404Cys
NM_145862.2:c.1124A>G	NP_665861.1:p.Tyr375Cys
XM_006724114.2:c.731A>G	XP_006724177.1:p.Tyr244Cys
XM_006724116.2:c.668A>G	XP_006724179.2:p.Tyr223Cys
XM_011529839.1:c.1370A>G	XP_011528141.1:p.Tyr457Cys
XM_011529840.1:c.1283A>G	XP_011528142.1:p.Tyr428Cys
XM_011529841.1:c.1139A>G	XP_011528143.1:p.Tyr380Cys
XM_011529842.1:c.1040A>G	XP_011528144.1:p.Tyr347Cys
XM_011529843.1:c.1010A>G	XP_011528145.1:p.Tyr337Cys
XM_011529845.1:c.548A>G	XP_011528147.1:p.Tyr183Cys
XR_937805.1:n.1370A>G
NM_001349956.1:c.1010A>G	NP_001336885.1:p.Tyr337Cys
NM_007194.4:c.1211A>G MANE Select	NP_009125.1:p.Tyr404Cys
XM_006724114.3:c.764A>G	XP_006724177.2:p.Tyr255Cys
XM_011529839.2:c.1370A>G	XP_011528141.1:p.Tyr457Cys
XM_011529840.3:c.1283A>G	XP_011528142.1:p.Tyr428Cys
XM_011529842.2:c.1040A>G	XP_011528144.1:p.Tyr347Cys
XM_011529845.2:c.548A>G	XP_011528147.1:p.Tyr183Cys
XM_017028560.1:c.1334A>G	XP_016884049.1:p.Tyr445Cys
XM_017028561.2:c.548A>G	XP_016884050.1:p.Tyr183Cys
XM_024452148.1:c.1241A>G	XP_024307916.1:p.Tyr414Cys
XM_024452149.1:c.1154A>G	XP_024307917.1:p.Tyr385Cys
XR_937805.2:n.1381A>G
NM_001005735.2:c.1340A>G	NP_001005735.1:p.Tyr447Cys
NM_001257387.2:c.548A>G	NP_001244316.1:p.Tyr183Cys
NM_001349956.2:c.1010A>G	NP_001336885.1:p.Tyr337Cys