Canonical Allele Identifier: CA2499226046

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1068278
• ClinVar RCV Id: RCV001379781
• dbSNP Id: rs2145748275

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689145del , CM000684.2:g.28689145del	GRCh38
NC_000022.10:g.29085133del , CM000684.1:g.29085133del	GRCh37
NC_000022.9:g.27415133del	NCBI36
NG_008150.1:g.57691del
NG_008150.2:g.57723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*268del	ENSP00000518557.1:n.*268del
ENST00000402731.6:c.1332del	ENSP00000384835.2:p.Leu445Ter
ENST00000404276.6:c.1533del MANE Select	ENSP00000385747.1:p.Leu512Ter
ENST00000425190.7:c.870del	ENSP00000390244.2:p.Leu291Ter
ENST00000464581.6:c.873del	ENSP00000483777.2:p.Leu292Ter
ENST00000648295.1:n.1085del
ENST00000649563.1:c.870del	ENSP00000496928.1:p.Leu291Ter
ENST00000650281.1:c.1533del	ENSP00000497000.1:p.Leu512Ter
ENST00000328354.10:c.1533del	ENSP00000329178.6:p.Leu512Ter
ENST00000348295.7:c.1446del	ENSP00000329012.5:p.Leu483Ter
ENST00000382580.6:c.1662del	ENSP00000372023.2:p.Leu555Ter
ENST00000402731.5:c.1446del	ENSP00000384835.1:p.Leu483Ter
ENST00000403642.5:c.1260del	ENSP00000384919.1:p.Leu421Ter
ENST00000404276.5:c.1533del	ENSP00000385747.1:p.Leu512Ter
ENST00000405598.5:c.1533del	ENSP00000386087.1:p.Leu512Ter
ENST00000416671.5:c.*1023del	ENSP00000402225.1:n.*1023del
ENST00000417588.5:c.1442del	ENSP00000412901.1:n.1442del
ENST00000433728.5:c.1471del	ENSP00000404400.1:n.1471del
ENST00000434810.5:c.731del
ENST00000448511.5:c.1423del	ENSP00000404567.1:n.1423del
ENST00000456369.5:c.335del
ENST00000472807.1:n.267del
NM_001005735.1:c.1662del	NP_001005735.1:p.Leu555Ter
NM_001257387.1:c.870del	NP_001244316.1:p.Leu291Ter
NM_007194.3:c.1533del	NP_009125.1:p.Leu512Ter
NM_145862.2:c.1446del	NP_665861.1:p.Leu483Ter
XM_006724114.2:c.1053del	XP_006724177.1:p.Leu352Ter
XM_006724116.2:c.990del	XP_006724179.2:p.Leu331Ter
XM_011529839.1:c.1692del	XP_011528141.1:p.Leu565Ter
XM_011529840.1:c.1605del	XP_011528142.1:p.Leu536Ter
XM_011529841.1:c.1461del	XP_011528143.1:p.Leu488Ter
XM_011529842.1:c.1362del	XP_011528144.1:p.Leu455Ter
XM_011529843.1:c.1332del	XP_011528145.1:p.Leu445Ter
XM_011529845.1:c.870del	XP_011528147.1:p.Leu291Ter
XR_937805.1:n.1692del
NM_001349956.1:c.1332del	NP_001336885.1:p.Leu445Ter
NM_007194.4:c.1533del MANE Select	NP_009125.1:p.Leu512Ter
XM_006724114.3:c.1086del	XP_006724177.2:p.Leu363Ter
XM_011529839.2:c.1692del	XP_011528141.1:p.Leu565Ter
XM_011529840.3:c.1605del	XP_011528142.1:p.Leu536Ter
XM_011529842.2:c.1362del	XP_011528144.1:p.Leu455Ter
XM_011529845.2:c.870del	XP_011528147.1:p.Leu291Ter
XM_017028560.1:c.1656del	XP_016884049.1:p.Leu553Ter
XM_017028561.2:c.870del	XP_016884050.1:p.Leu291Ter
XM_024452148.1:c.1563del	XP_024307916.1:p.Leu522Ter
XM_024452149.1:c.1476del	XP_024307917.1:p.Leu493Ter
XR_937805.2:n.1703del
NM_001005735.2:c.1662del	NP_001005735.1:p.Leu555Ter
NM_001257387.2:c.870del	NP_001244316.1:p.Leu291Ter
NM_001349956.2:c.1332del	NP_001336885.1:p.Leu445Ter