RGD:13436348 Rat Genome Database

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Variant: RGD:13436348 -  Homo sapiens

RGD ID: 13436348
RS ID: rs200917541
ClinVar ID: CV432970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 29,121,258
GRCh38 22 28,725,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.28725270G>T
NC_000022.10:g.29121258G>T
p.Tyr139*
NP_009125.1:p.Tyr139Ter
More... 		09/30/2019 5 prime utr variant|nonsense pathogenic Bone osteosarcoma; Breast and ovarian cancer; Breast cancer, familial; Cancer predisposition; CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Li-Fraumeni syndrome 2; Malignant tumor of prostate; Neoplastic Syndromes, Hereditary; none provided; Osteosarcoma, somatic; Prostate cancer; Tumor predisposition; TUMOR PREDISPOSITION SYNDROME 4
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:NM_001257387
Location:5UTRS;EXON

Gene Symbol:CHEK2
Accession:XM_011529845
Location:5UTRS;EXON

Gene Symbol:CHEK2
Accession:NM_001005735
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLKCVNDNYWFGR
DKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNK
VFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEIL
KKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSS
QEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLK
DQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPST
SRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_017028560
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRECVNDNYWFGRDK
SCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVF
VFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKK
LNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQE
EDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQ
ITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSR
KRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441106
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRECVNDNYWFGRDKSCEYCFDEPL
LKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQ
SVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIK
NFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVS
VGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTE
EALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441105
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLKCVNDNYWFGR
DKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNK
VFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEIL
KKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCG
TPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKL
LVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_007194
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYI
EDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLK
EATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVG
TAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEA
LRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_024452148
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREV
GPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGA
CGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELF
DKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTY
LAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVD
PKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529842
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREE
NLSCPYRIWFNGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDY
YIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGE
TSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSE
KALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPA
VCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529839
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNS
EIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPA
LNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRD
LKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPF
SEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTA
LPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529840
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNS
EIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPA
LNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILG
ETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVS
EKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRP
AVCAAVL*

Gene Symbol:CHEK2
Accession:XM_011529844
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNS
EIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPA
LNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQFSMILENMVVC
ITAYGFTQL*

Gene Symbol:CHEK2
Accession:XM_047441104
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRECVNDNYWFGRDKSCEYCFDEPL
LKRTDKYRT*SKKHFRIFREVGPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQ
SVYPKALRDEYIMSKTLGSGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIK
NFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDF
GHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIP
EVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEG
AETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_047441107
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK
CVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREENLSCPYRIWFNGACGEVKLAFERKTCKKVAIKIISKR
KFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLKEATCKLYFYQMLLA
VQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLG
VILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRK
FQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_145862
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREVGPKNSYIAYI
EDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGACGEVKLAFER
KTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELFDKVVGNKRLK
EATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSE
HRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALP
QVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:NM_001349956
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQELYSIPEDQEP
EDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREENLSCPYRIWF
NGACGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGG
ELFDKVVGNKRLKEATCKLYFYQMLLAVQYLHENGIIHRDLKPENVLLSSQEEDCLIKITDFGHSKILGETSLMRTLCGT
PTYLAPEVLVSVGTAGYNRAVDCWSLGVILFICLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLL
VVDPKARFTTEEALRHPWLQDEDMKRKFQDLLSEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

Gene Symbol:CHEK2
Accession:XM_024452149
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLLTSMVVMSRESDVEAQQSHGSSACSQPHGSVTQSQGSSSQSQGISSSSTSTMPNSSQSSHSSSGTLSSLETVSTQE
LYSIPEDQEPEDQEPEEPTPAPWARLWALQDGFANLECVNDNYWFGRDKSCEYCFDEPLLKRTDKYRT*SKKHFRIFREV
GPKNSYIAYIEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFVFFDLTVDDQSVYPKALRDEYIMSKTLGSGA
CGEVKLAFERKTCKKVAIKIISKRKFAIGSAREADPALNVETEIEILKKLNHPCIIKIKNFFDAEDYYIVLELMEGGELF
DKVVGNKRLKEATCKLYFYQMLLAVQITDFGHSKILGETSLMRTLCGTPTYLAPEVLVSVGTAGYNRAVDCWSLGVILFI
CLSGYPPFSEHRTQVSLKDQITSGKYNFIPEVWAEVSEKALDLVKKLLVVDPKARFTTEEALRHPWLQDEDMKRKFQDLL
SEENESTALPQVLAQPSTSRKRPREGEAEGAETTKRPAVCAAVL*

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

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

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

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

Gene Symbol:CHEK2
Accession:XM_006724114
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441108
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724116
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21876083   PMID:24713400   PMID:25741868   PMID:26467025   PMID:28492532   PMID:28724667   PMID:31409080   PMID:31650731   PMID:32041497   PMID:32318955  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000507030 CLINVAR
  RCV000541871 CLINVAR
  RCV000572280 CLINVAR
  RCV000763476 CLINVAR
  RCV001375597 CLINVAR
  RCV003150248 CLINVAR
dbSNP (RS) rs200917541 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C0677776 CLINVAR
  C3661900 CLINVAR
  CN221562 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  176807 CLINVAR
  259500 CLINVAR
  604373 CLINVAR
  609265 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR