{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1037802",
  "communityStandardTitle": [
    "NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015497[alleleid]",
        "alleleId": 1015497,
        "preferredName": "NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2194069",
        "RCV": [
          "RCV002647318"
        ],
        "variationId": 2194069
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-120301865-G-C",
        "id": "1-120301865-G-C",
        "variant": "1:120301865 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.120301865G>C?assembly=hg19",
        "id": "chr1:g.120301865G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119759242G>C?assembly=hg38",
        "id": "chr1:g.119759242G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145838142",
        "rs": 145838142
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-120301865-G-C?dataset=gnomad_r2_1",
        "id": "1-120301865-G-C",
        "variant": "1:120301865 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-119759242-G-C?dataset=gnomad_r3",
        "id": "1-119759242-G-C",
        "variant": "1:119759242 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-119759242-G-C?dataset=gnomad_r4",
        "id": "1-119759242-G-C",
        "variant": "1:119759242 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 119759242,
          "referenceAllele": "G",
          "start": 119759241
        }
      ],
      "hgvs": [
        "NC_000001.11:g.119759242G>C",
        "CM000663.2:g.119759242G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 120301865,
          "referenceAllele": "G",
          "start": 120301864
        }
      ],
      "hgvs": [
        "NC_000001.10:g.120301865G>C",
        "CM000663.1:g.120301865G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 120103388,
          "referenceAllele": "G",
          "start": 120103387
        }
      ],
      "hgvs": [
        "NC_000001.9:g.120103388G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14691,
          "referenceAllele": "C",
          "start": 14690
        }
      ],
      "hgvs": [
        "NG_013348.1:g.14691C>G",
        "LRG_447:g.14691C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002800"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "ENST00000369406.8:c.726C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358414.3:p.Tyr242Ter",
        "hgvsWellDefined": "ENSP00000358414.3:p.Tyr242_Val508delinsLysProAsnLeuAlaSerGluTyrProIleValAspGlyLysLeuSerIleGlnCysTyrLeuArgAlaLeuAspArgCysTyrThrSerTyrArgLysLysIleGlnAsnGlnTrpLysGlnAlaGlySerAspArgProPheThrLeuAspAspLeuGlnTyrMetIlePheHisThrProPheCysLysMetValGlnLysSerLeuAlaArgLeuMetPheAsnAspPheLeuSerAlaSerSerAspThrGlnThrSerLeuTyrLysGlyLeuGluAlaPheGlyGlyLeuLysLeuGluAspThrTyrThrAsnLysAspLeuAspLysAlaLeuLeuLysAlaSerGlnAspMetPheAspLysLysThrLysAlaSerLeuTyrLeuSerThrHisAsnGlyAsnMetTyrThrSerSerLeuTyrGlyCysLeuAlaSerLeuLeuSerHisHisSerAlaGlnGluLeuAlaGlySerArgIleGlyAlaPheSerTyrGlySerGlyLeuAlaAlaSerPhePheSerPheArgValSerGlnAspAlaAlaProGlySerProLeuAspLysLeuValSerSerThrSerAspLeuProLysArgLeuAlaSerArgLysCysValSerProGluGluPheThrGluIleMetAsnGlnArgGluGlnPheTyrHisLysValAsnPheSerProProGlyAspThrAsnSerLeuPheProGlyThrTrpTyrLeuGluArgValAspGluGlnHisArgArgLysTyrAlaArgArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750399",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369406.8:c.726C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005518.4:c.726C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358414.3:p.Tyr242Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005509.1:p.Tyr242Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "ENST00000369406.7:c.726C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358414.3:p.Tyr242Ter",
        "hgvsWellDefined": "ENSP00000358414.3:p.Tyr242_Val508delinsLysProAsnLeuAlaSerGluTyrProIleValAspGlyLysLeuSerIleGlnCysTyrLeuArgAlaLeuAspArgCysTyrThrSerTyrArgLysLysIleGlnAsnGlnTrpLysGlnAlaGlySerAspArgProPheThrLeuAspAspLeuGlnTyrMetIlePheHisThrProPheCysLysMetValGlnLysSerLeuAlaArgLeuMetPheAsnAspPheLeuSerAlaSerSerAspThrGlnThrSerLeuTyrLysGlyLeuGluAlaPheGlyGlyLeuLysLeuGluAspThrTyrThrAsnLysAspLeuAspLysAlaLeuLeuLysAlaSerGlnAspMetPheAspLysLysThrLysAlaSerLeuTyrLeuSerThrHisAsnGlyAsnMetTyrThrSerSerLeuTyrGlyCysLeuAlaSerLeuLeuSerHisHisSerAlaGlnGluLeuAlaGlySerArgIleGlyAlaPheSerTyrGlySerGlyLeuAlaAlaSerPhePheSerPheArgValSerGlnAspAlaAlaProGlySerProLeuAspLysLeuValSerSerThrSerAspLeuProLysArgLeuAlaSerArgLysCysValSerProGluGluPheThrGluIleMetAsnGlnArgGluGlnPheTyrHisLysValAsnPheSerProProGlyAspThrAsnSerLeuPheProGlyThrTrpTyrLeuGluArgValAspGluGlnHisArgArgLysTyrAlaArgArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "ENST00000472375.5:n.173C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "endIntronDirection": "+",
          "endIntronOffset": 622,
          "referenceAllele": "C",
          "start": 581,
          "startIntronDirection": "+",
          "startIntronOffset": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "ENST00000476640.1:n.581+622C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "ENST00000544913.2:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439495.2:p.Tyr200Ter",
        "hgvsWellDefined": "ENSP00000439495.2:p.Tyr200_Val466delinsLysProAsnLeuAlaSerGluTyrProIleValAspGlyLysLeuSerIleGlnCysTyrLeuArgAlaLeuAspArgCysTyrThrSerTyrArgLysLysIleGlnAsnGlnTrpLysGlnAlaGlySerAspArgProPheThrLeuAspAspLeuGlnTyrMetIlePheHisThrProPheCysLysMetValGlnLysSerLeuAlaArgLeuMetPheAsnAspPheLeuSerAlaSerSerAspThrGlnThrSerLeuTyrLysGlyLeuGluAlaPheGlyGlyLeuLysLeuGluAspThrTyrThrAsnLysAspLeuAspLysAlaLeuLeuLysAlaSerGlnAspMetPheAspLysLysThrLysAlaSerLeuTyrLeuSerThrHisAsnGlyAsnMetTyrThrSerSerLeuTyrGlyCysLeuAlaSerLeuLeuSerHisHisSerAlaGlnGluLeuAlaGlySerArgIleGlyAlaPheSerTyrGlySerGlyLeuAlaAlaSerPhePheSerPheArgValSerGlnAspAlaAlaProGlySerProLeuAspLysLeuValSerSerThrSerAspLeuProLysArgLeuAlaSerArgLysCysValSerProGluGluPheThrGluIleMetAsnGlnArgGluGlnPheTyrHisLysValAsnPheSerProProGlyAspThrAsnSerLeuPheProGlyThrTrpTyrLeuGluArgValAspGluGlnHisArgArgLysTyrAlaArgArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826018336",
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "NM_001166107.1:c.600C>G",
        "LRG_447t2:c.600C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159579.1:p.Tyr200Ter",
        "hgvsWellDefined": "NP_001159579.1:p.Tyr200_Val466delinsLysProAsnLeuAlaSerGluTyrProIleValAspGlyLysLeuSerIleGlnCysTyrLeuArgAlaLeuAspArgCysTyrThrSerTyrArgLysLysIleGlnAsnGlnTrpLysGlnAlaGlySerAspArgProPheThrLeuAspAspLeuGlnTyrMetIlePheHisThrProPheCysLysMetValGlnLysSerLeuAlaArgLeuMetPheAsnAspPheLeuSerAlaSerSerAspThrGlnThrSerLeuTyrLysGlyLeuGluAlaPheGlyGlyLeuLysLeuGluAspThrTyrThrAsnLysAspLeuAspLysAlaLeuLeuLysAlaSerGlnAspMetPheAspLysLysThrLysAlaSerLeuTyrLeuSerThrHisAsnGlyAsnMetTyrThrSerSerLeuTyrGlyCysLeuAlaSerLeuLeuSerHisHisSerAlaGlnGluLeuAlaGlySerArgIleGlyAlaPheSerTyrGlySerGlyLeuAlaAlaSerPhePheSerPheArgValSerGlnAspAlaAlaProGlySerProLeuAspLysLeuValSerSerThrSerAspLeuProLysArgLeuAlaSerArgLysCysValSerProGluGluPheThrGluIleMetAsnGlnArgGluGlnPheTyrHisLysValAsnPheSerProProGlyAspThrAsnSerLeuPheProGlyThrTrpTyrLeuGluArgValAspGluGlnHisArgArgLysTyrAlaArgArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580331798",
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "NM_005518.3:c.726C>G",
        "LRG_447t1:c.726C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005509.1:p.Tyr242Ter",
        "hgvsWellDefined": "NP_005509.1:p.Tyr242_Val508delinsLysProAsnLeuAlaSerGluTyrProIleValAspGlyLysLeuSerIleGlnCysTyrLeuArgAlaLeuAspArgCysTyrThrSerTyrArgLysLysIleGlnAsnGlnTrpLysGlnAlaGlySerAspArgProPheThrLeuAspAspLeuGlnTyrMetIlePheHisThrProPheCysLysMetValGlnLysSerLeuAlaArgLeuMetPheAsnAspPheLeuSerAlaSerSerAspThrGlnThrSerLeuTyrLysGlyLeuGluAlaPheGlyGlyLeuLysLeuGluAspThrTyrThrAsnLysAspLeuAspLysAlaLeuLeuLysAlaSerGlnAspMetPheAspLysLysThrLysAlaSerLeuTyrLeuSerThrHisAsnGlyAsnMetTyrThrSerSerLeuTyrGlyCysLeuAlaSerLeuLeuSerHisHisSerAlaGlnGluLeuAlaGlySerArgIleGlyAlaPheSerTyrGlySerGlyLeuAlaAlaSerPhePheSerPheArgValSerGlnAspAlaAlaProGlySerProLeuAspLysLeuValSerSerThrSerAspLeuProLysArgLeuAlaSerArgLysCysValSerProGluGluPheThrGluIleMetAsnGlnArgGluGlnPheTyrHisLysValAsnPheSerProProGlyAspThrAsnSerLeuPheProGlyThrTrpTyrLeuGluArgValAspGluGlnHisArgArgLysTyrAlaArgArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 622,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "XM_011541313.1:c.685+622C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539615.1:n.685+622C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "endIntronDirection": "+",
          "endIntronOffset": 622,
          "referenceAllele": "C",
          "start": 749,
          "startIntronDirection": "+",
          "startIntronOffset": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "XM_011541313.2:c.685+622C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539615.1:n.685+622C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580331798",
      "coordinates": [
        {
          "allele": "G",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005008",
      "geneNCBI_id": 3158,
      "geneSymbol": "HMGCS2",
      "hgvs": [
        "NM_005518.4:c.726C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005509.1:p.Tyr242Ter",
        "hgvsWellDefined": "NP_005509.1:p.Tyr242_Val508delinsLysProAsnLeuAlaSerGluTyrProIleValAspGlyLysLeuSerIleGlnCysTyrLeuArgAlaLeuAspArgCysTyrThrSerTyrArgLysLysIleGlnAsnGlnTrpLysGlnAlaGlySerAspArgProPheThrLeuAspAspLeuGlnTyrMetIlePheHisThrProPheCysLysMetValGlnLysSerLeuAlaArgLeuMetPheAsnAspPheLeuSerAlaSerSerAspThrGlnThrSerLeuTyrLysGlyLeuGluAlaPheGlyGlyLeuLysLeuGluAspThrTyrThrAsnLysAspLeuAspLysAlaLeuLeuLysAlaSerGlnAspMetPheAspLysLysThrLysAlaSerLeuTyrLeuSerThrHisAsnGlyAsnMetTyrThrSerSerLeuTyrGlyCysLeuAlaSerLeuLeuSerHisHisSerAlaGlnGluLeuAlaGlySerArgIleGlyAlaPheSerTyrGlySerGlyLeuAlaAlaSerPhePheSerPheArgValSerGlnAspAlaAlaProGlySerProLeuAspLysLeuValSerSerThrSerAspLeuProLysArgLeuAlaSerArgLysCysValSerProGluGluPheThrGluIleMetAsnGlnArgGluGlnPheTyrHisLysValAsnPheSerProProGlyAspThrAsnSerLeuPheProGlyThrTrpTyrLeuGluArgValAspGluGlnHisArgArgLysTyrAlaArgArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369406.8:c.726C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005518.4:c.726C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358414.3:p.Tyr242Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005509.1:p.Tyr242Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}