Canonical Allele Identifier: CA411094247
Gene: CHEK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694067T>C , CM000684.2:g.28694067T>C GRCh38
NC_000022.10:g.29090055T>C , CM000684.1:g.29090055T>C GRCh37
NC_000022.9:g.27420055T>C NCBI36
NG_008150.1:g.52768A>G
NG_008150.2:g.52800A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.*161A>G ENSP00000518557.1:n.*161A>G
ENST00000402731.6:c.1225A>G ENSP00000384835.2:p.Thr409Ala
ENST00000404276.6:c.1426A>G MANE Select ENSP00000385747.1:p.Thr476Ala
ENST00000425190.7:c.763A>G ENSP00000390244.2:p.Thr255Ala
ENST00000464581.6:c.766A>G ENSP00000483777.2:p.Thr256Ala
ENST00000648295.1:n.978A>G
ENST00000649563.1:c.763A>G ENSP00000496928.1:p.Thr255Ala
ENST00000650281.1:c.1426A>G ENSP00000497000.1:p.Thr476Ala
ENST00000328354.10:c.1426A>G ENSP00000329178.6:p.Thr476Ala
ENST00000348295.7:c.1339A>G ENSP00000329012.5:p.Thr447Ala
ENST00000382580.6:c.1555A>G ENSP00000372023.2:p.Thr519Ala
ENST00000402731.5:c.1339A>G ENSP00000384835.1:p.Thr447Ala
ENST00000403642.5:c.1153A>G ENSP00000384919.1:p.Thr385Ala
ENST00000404276.5:c.1426A>G ENSP00000385747.1:p.Thr476Ala
ENST00000405598.5:c.1426A>G ENSP00000386087.1:p.Thr476Ala
ENST00000416671.5:c.*916A>G ENSP00000402225.1:n.*916A>G
ENST00000417588.5:c.1335A>G ENSP00000412901.1:n.1335A>G
ENST00000433728.5:c.1364A>G ENSP00000404400.1:n.1364A>G
ENST00000434810.5:c.624A>G
ENST00000448511.5:c.1316A>G ENSP00000404567.1:n.1316A>G
ENST00000456369.5:c.264-4852A>G
NM_001005735.1:c.1555A>G NP_001005735.1:p.Thr519Ala
NM_001257387.1:c.763A>G NP_001244316.1:p.Thr255Ala
NM_007194.3:c.1426A>G NP_009125.1:p.Thr476Ala
NM_145862.2:c.1339A>G NP_665861.1:p.Thr447Ala
XM_006724114.2:c.946A>G XP_006724177.1:p.Thr316Ala
XM_006724116.2:c.883A>G XP_006724179.2:p.Thr295Ala
XM_011529839.1:c.1585A>G XP_011528141.1:p.Thr529Ala
XM_011529840.1:c.1498A>G XP_011528142.1:p.Thr500Ala
XM_011529841.1:c.1354A>G XP_011528143.1:p.Thr452Ala
XM_011529842.1:c.1255A>G XP_011528144.1:p.Thr419Ala
XM_011529843.1:c.1225A>G XP_011528145.1:p.Thr409Ala
XM_011529845.1:c.763A>G XP_011528147.1:p.Thr255Ala
XR_937805.1:n.1585A>G
NM_001349956.1:c.1225A>G NP_001336885.1:p.Thr409Ala
NM_007194.4:c.1426A>G MANE Select NP_009125.1:p.Thr476Ala
XM_006724114.3:c.979A>G XP_006724177.2:p.Thr327Ala
XM_011529839.2:c.1585A>G XP_011528141.1:p.Thr529Ala
XM_011529840.3:c.1498A>G XP_011528142.1:p.Thr500Ala
XM_011529842.2:c.1255A>G XP_011528144.1:p.Thr419Ala
XM_011529845.2:c.763A>G XP_011528147.1:p.Thr255Ala
XM_017028560.1:c.1549A>G XP_016884049.1:p.Thr517Ala
XM_017028561.2:c.763A>G XP_016884050.1:p.Thr255Ala
XM_024452148.1:c.1456A>G XP_024307916.1:p.Thr486Ala
XM_024452149.1:c.1369A>G XP_024307917.1:p.Thr457Ala
XR_937805.2:n.1596A>G
NM_001005735.2:c.1555A>G NP_001005735.1:p.Thr519Ala
NM_001257387.2:c.763A>G NP_001244316.1:p.Thr255Ala
NM_001349956.2:c.1225A>G NP_001336885.1:p.Thr409Ala