Canonical Allele Identifier: CA411097860
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890525
ClinVar RCV Id: RCV003608574

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696987A>C , CM000684.2:g.28696987A>C GRCh38
NC_000022.10:g.29092975A>C , CM000684.1:g.29092975A>C GRCh37
NC_000022.9:g.27422975A>C NCBI36
NG_008150.1:g.49848T>G
NG_008150.2:g.49880T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1745T>G ENSP00000518557.1:n.1009-1745T>G
ENST00000402731.6:c.808T>G ENSP00000384835.2:p.Tyr270Asp
ENST00000404276.6:c.1009T>G MANE Select ENSP00000385747.1:p.Tyr337Asp
ENST00000425190.7:c.346T>G ENSP00000390244.2:p.Tyr116Asp
ENST00000464581.6:c.349T>G ENSP00000483777.2:p.Tyr117Asp
ENST00000648295.1:n.561T>G
ENST00000649563.1:c.346T>G ENSP00000496928.1:p.Tyr116Asp
ENST00000650281.1:c.1009T>G ENSP00000497000.1:p.Tyr337Asp
ENST00000328354.10:c.1009T>G ENSP00000329178.6:p.Tyr337Asp
ENST00000348295.7:c.1009-1114T>G ENSP00000329012.5:n.1009-1114T>G
ENST00000382580.6:c.1138T>G ENSP00000372023.2:p.Tyr380Asp
ENST00000402731.5:c.1009-1114T>G ENSP00000384835.1:n.1009-1114T>G
ENST00000403642.5:c.736T>G ENSP00000384919.1:p.Tyr246Asp
ENST00000404276.5:c.1009T>G ENSP00000385747.1:p.Tyr337Asp
ENST00000405598.5:c.1009T>G ENSP00000386087.1:p.Tyr337Asp
ENST00000416671.5:c.*499T>G ENSP00000402225.1:n.*499T>G
ENST00000417588.5:c.918T>G ENSP00000412901.1:n.918T>G
ENST00000425190.6:c.346T>G ENSP00000390244.1:p.Tyr116Asp
ENST00000433028.6:c.*734T>G ENSP00000403659.1:n.*734T>G
ENST00000433728.5:c.947T>G ENSP00000404400.1:n.947T>G
ENST00000434810.5:c.240T>G
ENST00000447421.5:c.808T>G ENSP00000397478.2:p.Tyr270Asp
ENST00000448511.5:c.899T>G ENSP00000404567.1:n.899T>G
ENST00000456369.5:c.263+2851T>G
ENST00000464581.5:c.349T>G ENSP00000483777.1:p.Tyr117Asp
ENST00000491919.5:n.566T>G
NM_001005735.1:c.1138T>G NP_001005735.1:p.Tyr380Asp
NM_001257387.1:c.346T>G NP_001244316.1:p.Tyr116Asp
NM_007194.3:c.1009T>G NP_009125.1:p.Tyr337Asp
NM_145862.2:c.1009-1114T>G NP_665861.1:n.1009-1114T>G
XM_006724114.2:c.529T>G XP_006724177.1:p.Tyr177Asp
XM_006724116.2:c.466T>G XP_006724179.2:p.Tyr156Asp
XM_011529839.1:c.1168T>G XP_011528141.1:p.Tyr390Asp
XM_011529840.1:c.1168-1114T>G XP_011528142.1:n.1168-1114T>G
XM_011529841.1:c.937T>G XP_011528143.1:p.Tyr313Asp
XM_011529842.1:c.838T>G XP_011528144.1:p.Tyr280Asp
XM_011529843.1:c.808T>G XP_011528145.1:p.Tyr270Asp
XM_011529845.1:c.346T>G XP_011528147.1:p.Tyr116Asp
XR_937805.1:n.1168T>G
XR_937806.1:n.1163-1114T>G
NM_001349956.1:c.808T>G NP_001336885.1:p.Tyr270Asp
NM_007194.4:c.1009T>G MANE Select NP_009125.1:p.Tyr337Asp
XM_006724114.3:c.562T>G XP_006724177.2:p.Tyr188Asp
XM_011529839.2:c.1168T>G XP_011528141.1:p.Tyr390Asp
XM_011529840.3:c.1168-1114T>G XP_011528142.1:n.1168-1114T>G
XM_011529842.2:c.838T>G XP_011528144.1:p.Tyr280Asp
XM_011529845.2:c.346T>G XP_011528147.1:p.Tyr116Asp
XM_017028560.1:c.1132T>G XP_016884049.1:p.Tyr378Asp
XM_017028561.2:c.346T>G XP_016884050.1:p.Tyr116Asp
XM_024452148.1:c.1039T>G XP_024307916.1:p.Tyr347Asp
XM_024452149.1:c.1039-1114T>G XP_024307917.1:n.1039-1114T>G
XR_937805.2:n.1179T>G
XR_937806.2:n.1179-1114T>G
NM_001005735.2:c.1138T>G NP_001005735.1:p.Tyr380Asp
NM_001257387.2:c.346T>G NP_001244316.1:p.Tyr116Asp
NM_001349956.2:c.808T>G NP_001336885.1:p.Tyr270Asp