Canonical Allele Identifier: CA2582342742

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 2583505
• ClinVar RCV Id: RCV003337176

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28689182del , CM000684.2:g.28689182del	GRCh38
NC_000022.10:g.29085170del , CM000684.1:g.29085170del	GRCh37
NC_000022.9:g.27415170del	NCBI36
NG_008150.1:g.57653del
NG_008150.2:g.57685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*230del	ENSP00000518557.1:n.*230del
ENST00000402731.6:c.1294del	ENSP00000384835.2:p.Leu432CysfsTer14
ENST00000404276.6:c.1495del MANE Select	ENSP00000385747.1:p.Leu499CysfsTer14
ENST00000425190.7:c.832del	ENSP00000390244.2:p.Leu278CysfsTer14
ENST00000464581.6:c.835del	ENSP00000483777.2:p.Leu279CysfsTer14
ENST00000648295.1:n.1047del
ENST00000649563.1:c.832del	ENSP00000496928.1:p.Leu278CysfsTer14
ENST00000650281.1:c.1495del	ENSP00000497000.1:p.Leu499CysfsTer14
ENST00000328354.10:c.1495del	ENSP00000329178.6:p.Leu499CysfsTer14
ENST00000348295.7:c.1408del	ENSP00000329012.5:p.Leu470CysfsTer14
ENST00000382580.6:c.1624del	ENSP00000372023.2:p.Leu542CysfsTer14
ENST00000402731.5:c.1408del	ENSP00000384835.1:p.Leu470CysfsTer14
ENST00000403642.5:c.1222del	ENSP00000384919.1:p.Leu408CysfsTer14
ENST00000404276.5:c.1495del	ENSP00000385747.1:p.Leu499CysfsTer14
ENST00000405598.5:c.1495del	ENSP00000386087.1:p.Leu499CysfsTer14
ENST00000416671.5:c.*985del	ENSP00000402225.1:n.*985del
ENST00000417588.5:c.1404del	ENSP00000412901.1:n.1404del
ENST00000433728.5:c.1433del	ENSP00000404400.1:n.1433del
ENST00000434810.5:c.693del
ENST00000448511.5:c.1385del	ENSP00000404567.1:n.1385del
ENST00000456369.5:c.297del
ENST00000472807.1:n.229del
NM_001005735.1:c.1624del	NP_001005735.1:p.Leu542CysfsTer14
NM_001257387.1:c.832del	NP_001244316.1:p.Leu278CysfsTer14
NM_007194.3:c.1495del	NP_009125.1:p.Leu499CysfsTer14
NM_145862.2:c.1408del	NP_665861.1:p.Leu470CysfsTer14
XM_006724114.2:c.1015del	XP_006724177.1:p.Leu339CysfsTer14
XM_006724116.2:c.952del	XP_006724179.2:p.Leu318CysfsTer14
XM_011529839.1:c.1654del	XP_011528141.1:p.Leu552CysfsTer14
XM_011529840.1:c.1567del	XP_011528142.1:p.Leu523CysfsTer14
XM_011529841.1:c.1423del	XP_011528143.1:p.Leu475CysfsTer14
XM_011529842.1:c.1324del	XP_011528144.1:p.Leu442CysfsTer14
XM_011529843.1:c.1294del	XP_011528145.1:p.Leu432CysfsTer14
XM_011529845.1:c.832del	XP_011528147.1:p.Leu278CysfsTer14
XR_937805.1:n.1654del
NM_001349956.1:c.1294del	NP_001336885.1:p.Leu432CysfsTer14
NM_007194.4:c.1495del MANE Select	NP_009125.1:p.Leu499CysfsTer14
XM_006724114.3:c.1048del	XP_006724177.2:p.Leu350CysfsTer14
XM_011529839.2:c.1654del	XP_011528141.1:p.Leu552CysfsTer14
XM_011529840.3:c.1567del	XP_011528142.1:p.Leu523CysfsTer14
XM_011529842.2:c.1324del	XP_011528144.1:p.Leu442CysfsTer14
XM_011529845.2:c.832del	XP_011528147.1:p.Leu278CysfsTer14
XM_017028560.1:c.1618del	XP_016884049.1:p.Leu540CysfsTer14
XM_017028561.2:c.832del	XP_016884050.1:p.Leu278CysfsTer14
XM_024452148.1:c.1525del	XP_024307916.1:p.Leu509CysfsTer14
XM_024452149.1:c.1438del	XP_024307917.1:p.Leu480CysfsTer14
XR_937805.2:n.1665del
NM_001005735.2:c.1624del	NP_001005735.1:p.Leu542CysfsTer14
NM_001257387.2:c.832del	NP_001244316.1:p.Leu278CysfsTer14
NM_001349956.2:c.1294del	NP_001336885.1:p.Leu432CysfsTer14