Canonical Allele Identifier: CA2580099356
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1771939
ClinVar RCV Id: RCV002389416

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28693827_28694089del , CM000684.2:g.28693827_28694089del GRCh38
NC_000022.10:g.29089815_29090077del , CM000684.1:g.29089815_29090077del GRCh37
NC_000022.9:g.27419815_27420077del NCBI36
NG_008150.1:g.52750_53012del
NG_008150.2:g.52782_53044del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.*143_*196+209del
ENST00000402731.6:c.1207_1260+209del
ENST00000404276.6:c.1408_1461+209del
ENST00000425190.7:c.745_798+209del
ENST00000464581.6:c.748_801+209del
ENST00000648295.1:n.960_1013+209del
ENST00000649563.1:c.745_798+209del
ENST00000650281.1:c.1408_1461+209del
ENST00000328354.10:c.1408_1461+209del
ENST00000348295.7:c.1321_1374+209del
ENST00000382580.6:c.1537_1590+209del
ENST00000402731.5:c.1321_1374+209del
ENST00000403642.5:c.1135_1188+209del
ENST00000404276.5:c.1408_1461+209del
ENST00000405598.5:c.1408_1461+209del
ENST00000416671.5:c.*898_*951+209del
ENST00000417588.5:c.1317_1370+209del
ENST00000433728.5:c.1346_1399+209del
ENST00000434810.5:c.606_659+209del
ENST00000448511.5:c.1298_1351+209del
ENST00000456369.5:c.264-4870_264-4608del
NM_001005735.1:c.1537_1590+209del
NM_001257387.1:c.745_798+209del
NM_007194.3:c.1408_1461+209del
NM_145862.2:c.1321_1374+209del
XM_006724114.2:c.928_981+209del
XM_006724116.2:c.865_918+209del
XM_011529839.1:c.1567_1620+209del
XM_011529840.1:c.1480_1533+209del
XM_011529841.1:c.1336_1389+209del
XM_011529842.1:c.1237_1290+209del
XM_011529843.1:c.1207_1260+209del
XM_011529845.1:c.745_798+209del
XR_937805.1:n.1567_1620+209del
NM_001349956.1:c.1207_1260+209del
NM_007194.4:c.1408_1461+209del
XM_006724114.3:c.961_1014+209del
XM_011529839.2:c.1567_1620+209del
XM_011529840.3:c.1480_1533+209del
XM_011529842.2:c.1237_1290+209del
XM_011529845.2:c.745_798+209del
XM_017028560.1:c.1531_1584+209del
XM_017028561.2:c.745_798+209del
XM_024452148.1:c.1438_1491+209del
XM_024452149.1:c.1351_1404+209del
XR_937805.2:n.1578_1631+209del
NM_001005735.2:c.1537_1590+209del
NM_001257387.2:c.745_798+209del
NM_001349956.2:c.1207_1260+209del