RGD:11089598 Rat Genome Database

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Variant: RGD:11089598 -  Homo sapiens

RGD ID: 11089598
RS ID: rs876659519
ClinVar ID: CV236648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 29,099,507
GRCh38 22 28,703,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000022.11:g.28703519A>C
NC_000022.10:g.29099507A>C
NP_009125.1:p.Tyr298Ter
NP_001244316.1:p.Tyr77Ter
More... 		02/21/2023 nonsense pathogenic|likely pathogenic adult Breast cancer, familial; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:NM_001005735
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLKCVNDNYWFGR
DKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNK
VFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEIL
KKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSS
QEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLK
DQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPST
SRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441107
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREENLSCPYRIWFNGACGEVKLAFERKTCKKVAIKIISKR
KFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLA
VQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLG
VILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRK
FQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_024452149
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREV
GPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGA
CGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELF
DKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFI
CLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLL
SEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_001349956
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREENLSCPYRIWF
NGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGG
ELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGT
PTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLL
VVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441106
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRECVNDNYWFGRDKSCEYCFDEPL
LKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQ
SVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIK
NFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVS
VGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTE
EALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441104
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRECVNDNYWFGRDKSCEYCFDEPL
LKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQ
SVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIK
NFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDF
GHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIP
EVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEG
AETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_145862
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYI
EDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLK
EATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSE
HRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALP
QVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_007194
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYI
EDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLK
EATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVG
TAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEA
LRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529840
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNS
EIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPA
LNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILG
ETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVS
EKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRP
AVCAAVL*

Gene Symbol:CHEK2
Accession:XM_024452148
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREV
GPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGA
CGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELF
DKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTY
LAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVD
PKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_001257387
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVL
ELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLM
RTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALD
LVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAA
VL*

Gene Symbol:CHEK2
Accession:XM_006724116
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFVLLGSEMEFGADLVFLAVKPLTFYTGEVSLCPLQTGTMERLLYGIGACGEVKLAFERKTCKKVAIKIISKRKFAIGSA
READPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHEN
GIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICL
SGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSE
ENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529842
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREE
NLSCPYRIWFNGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY
*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGE
TSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSE
KALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPA
VCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441105
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLKCVNDNYWFGR
DKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNK
VFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEIL
KKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCG
TPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKL
LVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441108
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENKKERNLSIKVIHLQILFTVICLFWALIFDQGGLFLVNVFLTSRIRSFSLIFLLVSFWEFHNPGLHGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLK
EATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSE
HRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALP
QVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_006724114
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENKKERNLSIKVIHLQILFTVICLFWALIFDQGGLFLVNVFLTSRIRSFSLIFLLVSFWEFHNPGLHGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLK
EATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVG
TAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEA
LRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529839
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNS
EIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPA
LNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRD
LKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPF
SEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTA
LPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529844
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNS
EIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPA
LNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQFSMILENMVVC
ITAYGFTQL*

Gene Symbol:CHEK2
Accession:XM_011529845
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY*IVL
ELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLM
RTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALD
LVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAA
VL*

Gene Symbol:CHEK2
Accession:XM_017028560
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRECVNDNYWFGRDK
SCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVF
VFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKK
LNHPCIIKIKNFFDAEDY*IVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQE
EDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQ
ITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSR
KRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XR_007067954
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_007067955
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_937807
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_937806
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:21876083   PMID:24713400   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000215015 CLINVAR
  RCV000576520 CLINVAR
  RCV003128155 CLINVAR
dbSNP (RS) rs876659519 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C1883486 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  604373 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR