Canonical Allele Identifier: CA294479

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 142737
• ClinVar RCV Id: RCV000132111 ; RCV000205272 ; RCV000212478 ; RCV001798458 ; RCV002271420 ; RCV003162590 ; RCV003398771 ; RCV003483509
• dbSNP Id: rs587782684
• ExAC: 22:29083949 CG / C
• gnomAD v2: 22-29083949-CG-C
• gnomAD v3: 22-28687961-CG-C
• gnomAD v4: 22-28687961-CG-C
• MyVariant Identifiers: chr22:g.29083950del (hg19) ; chr22:g.28687962del (hg38)
• PubMed: PMID:12909615 ; PMID:27751358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687965del , CM000684.2:g.28687965del	GRCh38
NC_000022.10:g.29083953del , CM000684.1:g.29083953del	GRCh37
NC_000022.9:g.27413953del	NCBI36
NG_008150.1:g.58873del
NG_008150.2:g.58905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*302del	ENSP00000518557.1:n.*302del
ENST00000402731.6:c.1366del	ENSP00000384835.2:p.Arg456ValfsTer?
ENST00000404276.6:c.1567del MANE Select	ENSP00000385747.1:p.Arg523ValfsTer?
ENST00000425190.7:c.904del	ENSP00000390244.2:p.Arg302ValfsTer?
ENST00000464581.6:c.907del	ENSP00000483777.2:p.Arg303ValfsTer?
ENST00000648295.1:n.1119del
ENST00000649563.1:c.904del	ENSP00000496928.1:p.Arg302ValfsTer?
ENST00000650281.1:c.1567del	ENSP00000497000.1:p.Arg523ValfsTer?
ENST00000328354.10:c.1567del	ENSP00000329178.6:p.Arg523ValfsTer?
ENST00000348295.7:c.1480del	ENSP00000329012.5:p.Arg494ValfsTer?
ENST00000382580.6:c.1696del	ENSP00000372023.2:p.Arg566ValfsTer?
ENST00000402731.5:c.1480del	ENSP00000384835.1:p.Arg494ValfsTer?
ENST00000403642.5:c.1294del	ENSP00000384919.1:p.Arg432ValfsTer?
ENST00000404276.5:c.1567del	ENSP00000385747.1:p.Arg523ValfsTer?
ENST00000405598.5:c.1567del	ENSP00000386087.1:p.Arg523ValfsTer?
ENST00000416671.5:c.*1057del	ENSP00000402225.1:n.*1057del
ENST00000417588.5:c.1476del	ENSP00000412901.1:n.1476del
ENST00000433728.5:c.1505del	ENSP00000404400.1:n.1505del
ENST00000434810.5:c.765del
ENST00000448511.5:c.1457del	ENSP00000404567.1:n.1457del
ENST00000456369.5:c.369del
ENST00000472807.1:n.301del
NM_001005735.1:c.1696del	NP_001005735.1:p.Arg566ValfsTer?
NM_001257387.1:c.904del	NP_001244316.1:p.Arg302ValfsTer?
NM_007194.3:c.1567del	NP_009125.1:p.Arg523ValfsTer?
NM_145862.2:c.1480del	NP_665861.1:p.Arg494ValfsTer?
XM_006724114.2:c.1087del	XP_006724177.1:p.Arg363ValfsTer?
XM_006724116.2:c.1024del	XP_006724179.2:p.Arg342ValfsTer?
XM_011529839.1:c.1726del	XP_011528141.1:p.Arg576ValfsTer?
XM_011529840.1:c.1639del	XP_011528142.1:p.Arg547ValfsTer?
XM_011529841.1:c.1495del	XP_011528143.1:p.Arg499ValfsTer?
XM_011529842.1:c.1396del	XP_011528144.1:p.Arg466ValfsTer?
XM_011529843.1:c.1366del	XP_011528145.1:p.Arg456ValfsTer?
XM_011529845.1:c.904del	XP_011528147.1:p.Arg302ValfsTer?
XR_937805.1:n.1726del
NM_001349956.1:c.1366del	NP_001336885.1:p.Arg456ValfsTer?
NM_007194.4:c.1567del MANE Select	NP_009125.1:p.Arg523ValfsTer?
XM_006724114.3:c.1120del	XP_006724177.2:p.Arg374ValfsTer?
XM_011529839.2:c.1726del	XP_011528141.1:p.Arg576ValfsTer?
XM_011529840.3:c.1639del	XP_011528142.1:p.Arg547ValfsTer?
XM_011529842.2:c.1396del	XP_011528144.1:p.Arg466ValfsTer?
XM_011529845.2:c.904del	XP_011528147.1:p.Arg302ValfsTer?
XM_017028560.1:c.1690del	XP_016884049.1:p.Arg564ValfsTer?
XM_017028561.2:c.904del	XP_016884050.1:p.Arg302ValfsTer?
XM_024452148.1:c.1597del	XP_024307916.1:p.Arg533ValfsTer?
XM_024452149.1:c.1510del	XP_024307917.1:p.Arg504ValfsTer?
XR_937805.2:n.1737del
NM_001005735.2:c.1696del	NP_001005735.1:p.Arg566ValfsTer?
NM_001257387.2:c.904del	NP_001244316.1:p.Arg302ValfsTer?
NM_001349956.2:c.1366del	NP_001336885.1:p.Arg456ValfsTer?