Canonical Allele Identifier: CA2538681241
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28693867_28693869dup , CM000684.2:g.28693867_28693869dup GRCh38
NC_000022.10:g.29089855_29089857dup , CM000684.1:g.29089855_29089857dup GRCh37
NC_000022.9:g.27419855_27419857dup NCBI36
NG_008150.1:g.52974_52976dup
NG_008150.2:g.53006_53008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.*196+171_*196+173dup ENSP00000518557.1:n.*196+171_*196+173dup
ENST00000402731.6:c.1260+171_1260+173dup ENSP00000384835.2:n.1260+171_1260+173dup
ENST00000404276.6:c.1461+171_1461+173dup MANE Select ENSP00000385747.1:n.1461+171_1461+173dup
ENST00000425190.7:c.798+171_798+173dup ENSP00000390244.2:n.798+171_798+173dup
ENST00000464581.6:c.801+171_801+173dup ENSP00000483777.2:n.801+171_801+173dup
ENST00000648295.1:n.1013+171_1013+173dup
ENST00000649563.1:c.798+171_798+173dup ENSP00000496928.1:n.798+171_798+173dup
ENST00000650281.1:c.1461+171_1461+173dup ENSP00000497000.1:n.1461+171_1461+173dup
ENST00000328354.10:c.1461+171_1461+173dup ENSP00000329178.6:n.1461+171_1461+173dup
ENST00000348295.7:c.1374+171_1374+173dup ENSP00000329012.5:n.1374+171_1374+173dup
ENST00000382580.6:c.1590+171_1590+173dup ENSP00000372023.2:n.1590+171_1590+173dup
ENST00000402731.5:c.1374+171_1374+173dup ENSP00000384835.1:n.1374+171_1374+173dup
ENST00000403642.5:c.1188+171_1188+173dup ENSP00000384919.1:n.1188+171_1188+173dup
ENST00000404276.5:c.1461+171_1461+173dup ENSP00000385747.1:n.1461+171_1461+173dup
ENST00000405598.5:c.1461+171_1461+173dup ENSP00000386087.1:n.1461+171_1461+173dup
ENST00000416671.5:c.*951+171_*951+173dup ENSP00000402225.1:n.*951+171_*951+173dup
ENST00000417588.5:c.1370+171_1370+173dup ENSP00000412901.1:n.1370+171_1370+173dup
ENST00000433728.5:c.1399+171_1399+173dup ENSP00000404400.1:n.1399+171_1399+173dup
ENST00000434810.5:c.659+171_659+173dup
ENST00000448511.5:c.1351+171_1351+173dup ENSP00000404567.1:n.1351+171_1351+173dup
ENST00000456369.5:c.264-4646_264-4644dup
NM_001005735.1:c.1590+171_1590+173dup NP_001005735.1:n.1590+171_1590+173dup
NM_001257387.1:c.798+171_798+173dup NP_001244316.1:n.798+171_798+173dup
NM_007194.3:c.1461+171_1461+173dup NP_009125.1:n.1461+171_1461+173dup
NM_145862.2:c.1374+171_1374+173dup NP_665861.1:n.1374+171_1374+173dup
XM_006724114.2:c.981+171_981+173dup XP_006724177.1:n.981+171_981+173dup
XM_006724116.2:c.918+171_918+173dup XP_006724179.2:n.918+171_918+173dup
XM_011529839.1:c.1620+171_1620+173dup XP_011528141.1:n.1620+171_1620+173dup
XM_011529840.1:c.1533+171_1533+173dup XP_011528142.1:n.1533+171_1533+173dup
XM_011529841.1:c.1389+171_1389+173dup XP_011528143.1:n.1389+171_1389+173dup
XM_011529842.1:c.1290+171_1290+173dup XP_011528144.1:n.1290+171_1290+173dup
XM_011529843.1:c.1260+171_1260+173dup XP_011528145.1:n.1260+171_1260+173dup
XM_011529845.1:c.798+171_798+173dup XP_011528147.1:n.798+171_798+173dup
XR_937805.1:n.1620+171_1620+173dup
NM_001349956.1:c.1260+171_1260+173dup NP_001336885.1:n.1260+171_1260+173dup
NM_007194.4:c.1461+171_1461+173dup MANE Select NP_009125.1:n.1461+171_1461+173dup
XM_006724114.3:c.1014+171_1014+173dup XP_006724177.2:n.1014+171_1014+173dup
XM_011529839.2:c.1620+171_1620+173dup XP_011528141.1:n.1620+171_1620+173dup
XM_011529840.3:c.1533+171_1533+173dup XP_011528142.1:n.1533+171_1533+173dup
XM_011529842.2:c.1290+171_1290+173dup XP_011528144.1:n.1290+171_1290+173dup
XM_011529845.2:c.798+171_798+173dup XP_011528147.1:n.798+171_798+173dup
XM_017028560.1:c.1584+171_1584+173dup XP_016884049.1:n.1584+171_1584+173dup
XM_017028561.2:c.798+171_798+173dup XP_016884050.1:n.798+171_798+173dup
XM_024452148.1:c.1491+171_1491+173dup XP_024307916.1:n.1491+171_1491+173dup
XM_024452149.1:c.1404+171_1404+173dup XP_024307917.1:n.1404+171_1404+173dup
XR_937805.2:n.1631+171_1631+173dup
NM_001005735.2:c.1590+171_1590+173dup NP_001005735.1:n.1590+171_1590+173dup
NM_001257387.2:c.798+171_798+173dup NP_001244316.1:n.798+171_798+173dup
NM_001349956.2:c.1260+171_1260+173dup NP_001336885.1:n.1260+171_1260+173dup