Canonical Allele Identifier: CA2818653215
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28697116A>C , CM000684.2:g.28697116A>C GRCh38
NC_000022.10:g.29093104A>C , CM000684.1:g.29093104A>C GRCh37
NC_000022.9:g.27423104A>C NCBI36
NG_008150.1:g.49719T>G
NG_008150.2:g.49751T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1874T>G ENSP00000518557.1:n.1009-1874T>G
ENST00000402731.6:c.808-129T>G ENSP00000384835.2:n.808-129T>G
ENST00000404276.6:c.1009-129T>G MANE Select ENSP00000385747.1:n.1009-129T>G
ENST00000425190.7:c.346-129T>G ENSP00000390244.2:n.346-129T>G
ENST00000464581.6:c.349-129T>G ENSP00000483777.2:n.349-129T>G
ENST00000648295.1:n.561-129T>G
ENST00000649563.1:c.346-129T>G ENSP00000496928.1:n.346-129T>G
ENST00000650281.1:c.1009-129T>G ENSP00000497000.1:n.1009-129T>G
ENST00000328354.10:c.1009-129T>G ENSP00000329178.6:n.1009-129T>G
ENST00000348295.7:c.1009-1243T>G ENSP00000329012.5:n.1009-1243T>G
ENST00000382580.6:c.1138-129T>G ENSP00000372023.2:n.1138-129T>G
ENST00000402731.5:c.1009-1243T>G ENSP00000384835.1:n.1009-1243T>G
ENST00000403642.5:c.736-129T>G ENSP00000384919.1:n.736-129T>G
ENST00000404276.5:c.1009-129T>G ENSP00000385747.1:n.1009-129T>G
ENST00000405598.5:c.1009-129T>G ENSP00000386087.1:n.1009-129T>G
ENST00000416671.5:c.*499-129T>G ENSP00000402225.1:n.*499-129T>G
ENST00000417588.5:c.918-129T>G ENSP00000412901.1:n.918-129T>G
ENST00000425190.6:c.346-129T>G ENSP00000390244.1:n.346-129T>G
ENST00000433028.6:c.*734-129T>G ENSP00000403659.1:n.*734-129T>G
ENST00000433728.5:c.947-129T>G ENSP00000404400.1:n.947-129T>G
ENST00000434810.5:c.240-129T>G
ENST00000447421.5:c.808-129T>G ENSP00000397478.2:n.808-129T>G
ENST00000448511.5:c.899-129T>G ENSP00000404567.1:n.899-129T>G
ENST00000456369.5:c.263+2722T>G
ENST00000464581.5:c.349-129T>G ENSP00000483777.1:n.349-129T>G
ENST00000491919.5:n.566-129T>G
NM_001005735.1:c.1138-129T>G NP_001005735.1:n.1138-129T>G
NM_001257387.1:c.346-129T>G NP_001244316.1:n.346-129T>G
NM_007194.3:c.1009-129T>G NP_009125.1:n.1009-129T>G
NM_145862.2:c.1009-1243T>G NP_665861.1:n.1009-1243T>G
XM_006724114.2:c.529-129T>G XP_006724177.1:n.529-129T>G
XM_006724116.2:c.466-129T>G XP_006724179.2:n.466-129T>G
XM_011529839.1:c.1168-129T>G XP_011528141.1:n.1168-129T>G
XM_011529840.1:c.1168-1243T>G XP_011528142.1:n.1168-1243T>G
XM_011529841.1:c.937-129T>G XP_011528143.1:n.937-129T>G
XM_011529842.1:c.838-129T>G XP_011528144.1:n.838-129T>G
XM_011529843.1:c.808-129T>G XP_011528145.1:n.808-129T>G
XM_011529844.1:c.1181T>G XP_011528146.1:p.Leu394Trp
XM_011529845.1:c.346-129T>G XP_011528147.1:n.346-129T>G
XR_937805.1:n.1168-129T>G
XR_937806.1:n.1163-1243T>G
XR_937807.1:n.1176T>G
NM_001349956.1:c.808-129T>G NP_001336885.1:n.808-129T>G
NM_007194.4:c.1009-129T>G MANE Select NP_009125.1:n.1009-129T>G
XM_006724114.3:c.562-129T>G XP_006724177.2:n.562-129T>G
XM_011529839.2:c.1168-129T>G XP_011528141.1:n.1168-129T>G
XM_011529840.3:c.1168-1243T>G XP_011528142.1:n.1168-1243T>G
XM_011529842.2:c.838-129T>G XP_011528144.1:n.838-129T>G
XM_011529844.2:c.1181T>G XP_011528146.1:p.Leu394Trp
XM_011529845.2:c.346-129T>G XP_011528147.1:n.346-129T>G
XM_017028560.1:c.1132-129T>G XP_016884049.1:n.1132-129T>G
XM_017028561.2:c.346-129T>G XP_016884050.1:n.346-129T>G
XM_024452148.1:c.1039-129T>G XP_024307916.1:n.1039-129T>G
XM_024452149.1:c.1039-1243T>G XP_024307917.1:n.1039-1243T>G
XR_937805.2:n.1179-129T>G
XR_937806.2:n.1179-1243T>G
XR_937807.2:n.1192T>G
NM_001005735.2:c.1138-129T>G NP_001005735.1:n.1138-129T>G
NM_001257387.2:c.346-129T>G NP_001244316.1:n.346-129T>G
NM_001349956.2:c.808-129T>G NP_001336885.1:n.808-129T>G