Canonical Allele Identifier: CA638797477

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2020900
• ClinVar RCV Id: RCV002857625
• dbSNP Id: rs1319009992
• gnomAD v2: 22-29090065-CT-C
• gnomAD v4: 22-28694077-CT-C
• MyVariant Identifiers: chr22:g.29090066del (hg19) ; chr22:g.28694078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694080del , CM000684.2:g.28694080del	GRCh38
NC_000022.10:g.29090068del , CM000684.1:g.29090068del	GRCh37
NC_000022.9:g.27420068del	NCBI36
NG_008150.1:g.52757del
NG_008150.2:g.52789del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*150del	ENSP00000518557.1:n.*150del
ENST00000402731.6:c.1214del	ENSP00000384835.2:p.Lys405ArgfsTer10
ENST00000404276.6:c.1415del MANE Select	ENSP00000385747.1:p.Lys472ArgfsTer10
ENST00000425190.7:c.752del	ENSP00000390244.2:p.Lys251ArgfsTer10
ENST00000464581.6:c.755del	ENSP00000483777.2:p.Lys252ArgfsTer10
ENST00000648295.1:n.967del
ENST00000649563.1:c.752del	ENSP00000496928.1:p.Lys251ArgfsTer10
ENST00000650281.1:c.1415del	ENSP00000497000.1:p.Lys472ArgfsTer10
ENST00000328354.10:c.1415del	ENSP00000329178.6:p.Lys472ArgfsTer10
ENST00000348295.7:c.1328del	ENSP00000329012.5:p.Lys443ArgfsTer10
ENST00000382580.6:c.1544del	ENSP00000372023.2:p.Lys515ArgfsTer10
ENST00000402731.5:c.1328del	ENSP00000384835.1:p.Lys443ArgfsTer10
ENST00000403642.5:c.1142del	ENSP00000384919.1:p.Lys381ArgfsTer10
ENST00000404276.5:c.1415del	ENSP00000385747.1:p.Lys472ArgfsTer10
ENST00000405598.5:c.1415del	ENSP00000386087.1:p.Lys472ArgfsTer10
ENST00000416671.5:c.*905del	ENSP00000402225.1:n.*905del
ENST00000417588.5:c.1324del	ENSP00000412901.1:n.1324del
ENST00000433728.5:c.1353del	ENSP00000404400.1:n.1353del
ENST00000434810.5:c.613del
ENST00000448511.5:c.1305del	ENSP00000404567.1:n.1305del
ENST00000456369.5:c.264-4863del
NM_001005735.1:c.1544del	NP_001005735.1:p.Lys515ArgfsTer10
NM_001257387.1:c.752del	NP_001244316.1:p.Lys251ArgfsTer10
NM_007194.3:c.1415del	NP_009125.1:p.Lys472ArgfsTer10
NM_145862.2:c.1328del	NP_665861.1:p.Lys443ArgfsTer10
XM_006724114.2:c.935del	XP_006724177.1:p.Lys312ArgfsTer10
XM_006724116.2:c.872del	XP_006724179.2:p.Lys291ArgfsTer10
XM_011529839.1:c.1574del	XP_011528141.1:p.Lys525ArgfsTer10
XM_011529840.1:c.1487del	XP_011528142.1:p.Lys496ArgfsTer10
XM_011529841.1:c.1343del	XP_011528143.1:p.Lys448ArgfsTer10
XM_011529842.1:c.1244del	XP_011528144.1:p.Lys415ArgfsTer10
XM_011529843.1:c.1214del	XP_011528145.1:p.Lys405ArgfsTer10
XM_011529845.1:c.752del	XP_011528147.1:p.Lys251ArgfsTer10
XR_937805.1:n.1574del
NM_001349956.1:c.1214del	NP_001336885.1:p.Lys405ArgfsTer10
NM_007194.4:c.1415del MANE Select	NP_009125.1:p.Lys472ArgfsTer10
XM_006724114.3:c.968del	XP_006724177.2:p.Lys323ArgfsTer10
XM_011529839.2:c.1574del	XP_011528141.1:p.Lys525ArgfsTer10
XM_011529840.3:c.1487del	XP_011528142.1:p.Lys496ArgfsTer10
XM_011529842.2:c.1244del	XP_011528144.1:p.Lys415ArgfsTer10
XM_011529845.2:c.752del	XP_011528147.1:p.Lys251ArgfsTer10
XM_017028560.1:c.1538del	XP_016884049.1:p.Lys513ArgfsTer10
XM_017028561.2:c.752del	XP_016884050.1:p.Lys251ArgfsTer10
XM_024452148.1:c.1445del	XP_024307916.1:p.Lys482ArgfsTer10
XM_024452149.1:c.1358del	XP_024307917.1:p.Lys453ArgfsTer10
XR_937805.2:n.1585del
NM_001005735.2:c.1544del	NP_001005735.1:p.Lys515ArgfsTer10
NM_001257387.2:c.752del	NP_001244316.1:p.Lys251ArgfsTer10
NM_001349956.2:c.1214del	NP_001336885.1:p.Lys405ArgfsTer10