View transcript #00000040

Transcript name transcript variant 1
Gene name CHEK2 (checkpoint kinase 2)
Chromosome 22
Transcript - NCBI ID NM_007194.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009125.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
+/+ 1-15 deletion of exons 1-15 . Hetero N/A .
./. 10-14 exon 10-14 deletion . Not specified no .
?/? 2 c.7C>T p.(Arg3Trp) Hetero no r.(?)
?/? 2 c.46A>C p.(Ser16Arg) Hetero no r.(?)
?/? 2 c.80A>C p.(Gln27Pro) Hetero no r.(?)
?/? 2 c.190G>A p.(Glu64Lys) Hetero no r.(?)
./- 2 c.252A>G p.(=) Hetero no r.(=)
-?/-? 2 c.252A>G p.(=) Hetero no r.(=)
+/+ 2 c.283C>T p.(Arg95*) Hetero N/A r.(?)
./-? 2i c.319+379A>G p.(=) Hetero no r.(=)
./-? 2i c.319+379A>G p.(=) Hetero BRCA2 r.(=)
./-? 2i c.319+379A>G p.(=) Hetero no r.(=)
./-? 2i c.319+379A>G p.(=) Homo no r.(=)
+/+? 3 c.349A>G p.(Arg117Gly) Hetero N/A r.(?)
+?/+? 3 c.349A>G p.(Arg117Gly) Hetero N/A r.(?)
+?/+? 3 c.433C>T p.(Arg145Trp) Hetero N/A r.(?)
+?/+? 4 c.499G>A p.(Gly167Arg) Hetero no r.(?)
+?/+? 4 c.499G>A p.(Gly167Arg) Hetero no r.(?)
?/? 4 c.549G>C p.(Leu183Phe) Hetero no r.(?)
?/? 4 c.580A>C p.(Ser194Arg) Hetero no r.(?)
?/? 4i c.592+3A>T p.? Hetero no r.spl?
?/? 4 c.663C>G p.(Ile221Met) Hetero no r.(?)
?/? 9 c.949A>G p.(Lys317Glu) Hetero no r.(?)
?/? 5 c.949A>G p.(Lys317Glu) Hetero no r.(?)
?/? 9 c.992T>C p.(Met331Thr) Hetero no r.(?)
+/+ 11 c.1100delC p.(Thr367Metfs*15) Hetero BRCA1 r.(?)
?/? 11 c.1175C>T p.(Ala392Val) Hetero no r.(?)
?/? 12 c.1259G>A p.(Cys420Tyr) Hetero no r.(?)
?/? 12 c.1270T>C p.(Tyr424His) Hetero no r.(?)
./. 12 c.1283C>T p.(Ser428Phe) Hetero N/A r.(?)
./. 12 c.1283C>T p.(Ser428Phe) Hetero N/A r.(?)
?/? 12 c.1312G>T p.(Asp438Tyr) Hetero no r.(?)
?/? 13 c.1406T>C p.(Val469Ala) Hetero no r.(?)
+?/+? 13 c.1427C>T p.(Thr476Met) Hetero no r.(?)
?/+? 12 c.1427C>T p.(Thr476Met) Hetero no r.(?)
-/-? 15 c.1497G>C p.(=) Hetero no r.(=)
+?/+? 15 c.1555C>T p.(Arg519*) Hetero N/A r.(?)
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