Canonical Allele Identifier: CA10603388

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 280207
• ClinVar RCV Id: RCV000358352
• dbSNP Id: rs886041455
• MyVariant Identifiers: chr22:g.29091748dupC (hg19) ; chr22:g.29091747_29091748insC (hg19) ; chr22:g.28695760dupC (hg38) ; chr22:g.28695759_28695760insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695762dup , CM000684.2:g.28695762dup	GRCh38
NC_000022.10:g.29091750dup , CM000684.1:g.29091750dup	GRCh37
NC_000022.9:g.27421750dup	NCBI36
NG_008150.1:g.51075dup
NG_008150.2:g.51107dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-518dup	ENSP00000518557.1:n.1009-518dup
ENST00000402731.6:c.1008dup	ENSP00000384835.2:p.Tyr337ValfsTer2
ENST00000404276.6:c.1209dup MANE Select	ENSP00000385747.1:p.Tyr404ValfsTer2
ENST00000425190.7:c.546dup	ENSP00000390244.2:p.Tyr183ValfsTer2
ENST00000464581.6:c.549dup	ENSP00000483777.2:p.Tyr184ValfsTer2
ENST00000648295.1:n.761dup
ENST00000649563.1:c.546dup	ENSP00000496928.1:p.Tyr183ValfsTer2
ENST00000650281.1:c.1209dup	ENSP00000497000.1:p.Tyr404ValfsTer2
ENST00000328354.10:c.1209dup	ENSP00000329178.6:p.Tyr404ValfsTer2
ENST00000348295.7:c.1122dup	ENSP00000329012.5:p.Tyr375ValfsTer2
ENST00000382580.6:c.1338dup	ENSP00000372023.2:p.Tyr447ValfsTer2
ENST00000402731.5:c.1122dup	ENSP00000384835.1:p.Tyr375ValfsTer2
ENST00000403642.5:c.936dup	ENSP00000384919.1:p.Tyr313ValfsTer2
ENST00000404276.5:c.1209dup	ENSP00000385747.1:p.Tyr404ValfsTer2
ENST00000405598.5:c.1209dup	ENSP00000386087.1:p.Tyr404ValfsTer2
ENST00000416671.5:c.*699dup	ENSP00000402225.1:n.*699dup
ENST00000417588.5:c.1118dup	ENSP00000412901.1:n.1118dup
ENST00000433728.5:c.1147dup	ENSP00000404400.1:n.1147dup
ENST00000434810.5:c.440dup
ENST00000448511.5:c.1099dup	ENSP00000404567.1:n.1099dup
ENST00000456369.5:c.263+4078dup
NM_001005735.1:c.1338dup	NP_001005735.1:p.Tyr447ValfsTer2
NM_001257387.1:c.546dup	NP_001244316.1:p.Tyr183ValfsTer2
NM_007194.3:c.1209dup	NP_009125.1:p.Tyr404ValfsTer2
NM_145862.2:c.1122dup	NP_665861.1:p.Tyr375ValfsTer2
XM_006724114.2:c.729dup	XP_006724177.1:p.Tyr244ValfsTer2
XM_006724116.2:c.666dup	XP_006724179.2:p.Tyr223ValfsTer2
XM_011529839.1:c.1368dup	XP_011528141.1:p.Tyr457ValfsTer2
XM_011529840.1:c.1281dup	XP_011528142.1:p.Tyr428ValfsTer2
XM_011529841.1:c.1137dup	XP_011528143.1:p.Tyr380ValfsTer2
XM_011529842.1:c.1038dup	XP_011528144.1:p.Tyr347ValfsTer2
XM_011529843.1:c.1008dup	XP_011528145.1:p.Tyr337ValfsTer2
XM_011529845.1:c.546dup	XP_011528147.1:p.Tyr183ValfsTer2
XR_937805.1:n.1368dup
NM_001349956.1:c.1008dup	NP_001336885.1:p.Tyr337ValfsTer2
NM_007194.4:c.1209dup MANE Select	NP_009125.1:p.Tyr404ValfsTer2
XM_006724114.3:c.762dup	XP_006724177.2:p.Tyr255ValfsTer2
XM_011529839.2:c.1368dup	XP_011528141.1:p.Tyr457ValfsTer2
XM_011529840.3:c.1281dup	XP_011528142.1:p.Tyr428ValfsTer2
XM_011529842.2:c.1038dup	XP_011528144.1:p.Tyr347ValfsTer2
XM_011529845.2:c.546dup	XP_011528147.1:p.Tyr183ValfsTer2
XM_017028560.1:c.1332dup	XP_016884049.1:p.Tyr445ValfsTer2
XM_017028561.2:c.546dup	XP_016884050.1:p.Tyr183ValfsTer2
XM_024452148.1:c.1239dup	XP_024307916.1:p.Tyr414ValfsTer2
XM_024452149.1:c.1152dup	XP_024307917.1:p.Tyr385ValfsTer2
XR_937805.2:n.1379dup
NM_001005735.2:c.1338dup	NP_001005735.1:p.Tyr447ValfsTer2
NM_001257387.2:c.546dup	NP_001244316.1:p.Tyr183ValfsTer2
NM_001349956.2:c.1008dup	NP_001336885.1:p.Tyr337ValfsTer2