Canonical Allele Identifier: CA411095305
Gene: CHEK2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695125A>T , CM000684.2:g.28695125A>T GRCh38
NC_000022.10:g.29091113A>T , CM000684.1:g.29091113A>T GRCh37
NC_000022.9:g.27421113A>T NCBI36
NG_008150.1:g.51710T>A
NG_008150.2:g.51742T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.*110+2T>A ENSP00000518557.1:n.*110+2T>A
ENST00000402731.6:c.1174+2T>A ENSP00000384835.2:n.1174+2T>A
ENST00000404276.6:c.1375+2T>A MANE Select ENSP00000385747.1:n.1375+2T>A
ENST00000425190.7:c.712+2T>A ENSP00000390244.2:n.712+2T>A
ENST00000464581.6:c.715+2T>A ENSP00000483777.2:n.715+2T>A
ENST00000648295.1:n.927+2T>A
ENST00000649563.1:c.712+2T>A ENSP00000496928.1:n.712+2T>A
ENST00000650281.1:c.1375+2T>A ENSP00000497000.1:n.1375+2T>A
ENST00000328354.10:c.1375+2T>A ENSP00000329178.6:n.1375+2T>A
ENST00000348295.7:c.1288+2T>A ENSP00000329012.5:n.1288+2T>A
ENST00000382580.6:c.1504+2T>A ENSP00000372023.2:n.1504+2T>A
ENST00000402731.5:c.1288+2T>A ENSP00000384835.1:n.1288+2T>A
ENST00000403642.5:c.1102+2T>A ENSP00000384919.1:n.1102+2T>A
ENST00000404276.5:c.1375+2T>A ENSP00000385747.1:n.1375+2T>A
ENST00000405598.5:c.1375+2T>A ENSP00000386087.1:n.1375+2T>A
ENST00000416671.5:c.*865+2T>A ENSP00000402225.1:n.*865+2T>A
ENST00000417588.5:c.1284+2T>A ENSP00000412901.1:n.1284+2T>A
ENST00000433728.5:c.1313+2T>A ENSP00000404400.1:n.1313+2T>A
ENST00000434810.5:c.573+2T>A
ENST00000448511.5:c.1265+2T>A ENSP00000404567.1:n.1265+2T>A
ENST00000456369.5:c.263+4713T>A
NM_001005735.1:c.1504+2T>A NP_001005735.1:n.1504+2T>A
NM_001257387.1:c.712+2T>A NP_001244316.1:n.712+2T>A
NM_007194.3:c.1375+2T>A NP_009125.1:n.1375+2T>A
NM_145862.2:c.1288+2T>A NP_665861.1:n.1288+2T>A
XM_006724114.2:c.895+2T>A XP_006724177.1:n.895+2T>A
XM_006724116.2:c.832+2T>A XP_006724179.2:n.832+2T>A
XM_011529839.1:c.1534+2T>A XP_011528141.1:n.1534+2T>A
XM_011529840.1:c.1447+2T>A XP_011528142.1:n.1447+2T>A
XM_011529841.1:c.1303+2T>A XP_011528143.1:n.1303+2T>A
XM_011529842.1:c.1204+2T>A XP_011528144.1:n.1204+2T>A
XM_011529843.1:c.1174+2T>A XP_011528145.1:n.1174+2T>A
XM_011529845.1:c.712+2T>A XP_011528147.1:n.712+2T>A
XR_937805.1:n.1534+2T>A
NM_001349956.1:c.1174+2T>A NP_001336885.1:n.1174+2T>A
NM_007194.4:c.1375+2T>A MANE Select NP_009125.1:n.1375+2T>A
XM_006724114.3:c.928+2T>A XP_006724177.2:n.928+2T>A
XM_011529839.2:c.1534+2T>A XP_011528141.1:n.1534+2T>A
XM_011529840.3:c.1447+2T>A XP_011528142.1:n.1447+2T>A
XM_011529842.2:c.1204+2T>A XP_011528144.1:n.1204+2T>A
XM_011529845.2:c.712+2T>A XP_011528147.1:n.712+2T>A
XM_017028560.1:c.1498+2T>A XP_016884049.1:n.1498+2T>A
XM_017028561.2:c.712+2T>A XP_016884050.1:n.712+2T>A
XM_024452148.1:c.1405+2T>A XP_024307916.1:n.1405+2T>A
XM_024452149.1:c.1318+2T>A XP_024307917.1:n.1318+2T>A
XR_937805.2:n.1545+2T>A
NM_001005735.2:c.1504+2T>A NP_001005735.1:n.1504+2T>A
NM_001257387.2:c.712+2T>A NP_001244316.1:n.712+2T>A
NM_001349956.2:c.1174+2T>A NP_001336885.1:n.1174+2T>A
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