{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117558",
  "communityStandardTitle": [
    "NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20542[alleleid]",
        "alleleId": 20542,
        "preferredName": "NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5503",
        "RCV": [
          "RCV000005838"
        ],
        "variationId": 5503
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.178557006C>T?assembly=hg19",
        "id": "chr5:g.178557006C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.179130005C>T?assembly=hg38",
        "id": "chr5:g.179130005C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853147",
        "rs": 137853147
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 179130005,
          "referenceAllele": "C",
          "start": 179130004
        }
      ],
      "hgvs": [
        "NC_000005.10:g.179130005C>T",
        "CM000667.2:g.179130005C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 178557006,
          "referenceAllele": "C",
          "start": 178557005
        }
      ],
      "hgvs": [
        "NC_000005.9:g.178557006C>T",
        "CM000667.1:g.178557006C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 178489612,
          "referenceAllele": "C",
          "start": 178489611
        }
      ],
      "hgvs": [
        "NC_000005.8:g.178489612C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220324,
          "referenceAllele": "G",
          "start": 220323
        }
      ],
      "hgvs": [
        "NG_023212.2:g.220324G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220324,
          "referenceAllele": "G",
          "start": 220323
        }
      ],
      "hgvs": [
        "NG_023212.3:g.220324G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000698889.1:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514008.1:p.Trp795Ter",
        "hgvsWellDefined": "ENSP00000514008.1:p.Trp795_Asn999delinsGluTyrArgAspGluAspGlyArgGluThrLeuGlnThrMetGlyProLeuHisGlyThrIleThrValLeuValIleProValGlyAspThrArgValSerLeuThrTyrLysTyrMetIleHisGluAspSerLeuAsnValAspAspAsnAsnValLeuGluGluAspSerValValTyrGluTrpAlaLeuLysLysTrpSerProCysSerLysProCysGlyGlyGlySerGlnPheThrLysTyrGlyCysArgArgArgLeuAspHisLysMetValHisArgGlyPheCysAlaAlaLeuSerLysProLysAlaIleArgArgAlaCysAsnProGlnGluCysSerGlnProValTrpValThrGlyGluTrpGluProCysSerGlnThrCysGlyArgThrGlyMetGlnValArgSerValArgCysIleGlnProLeuHisAspAsnThrThrArgSerValHisAlaLysHisCysAsnAspAlaArgProGluSerArgArgAlaCysSerArgGluLeuCysProGlyArgTrpArgAlaGlyProTrpSerGlnValArgAsnProProIleProCysProGlnLeuGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000251582.12:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251582.7:p.Trp795Ter",
        "hgvsWellDefined": "ENSP00000251582.7:p.Trp795_Phe1211delinsGluTyrArgAspGluAspGlyArgGluThrLeuGlnThrMetGlyProLeuHisGlyThrIleThrValLeuValIleProValGlyAspThrArgValSerLeuThrTyrLysTyrMetIleHisGluAspSerLeuAsnValAspAspAsnAsnValLeuGluGluAspSerValValTyrGluTrpAlaLeuLysLysTrpSerProCysSerLysProCysGlyGlyGlySerGlnPheThrLysTyrGlyCysArgArgArgLeuAspHisLysMetValHisArgGlyPheCysAlaAlaLeuSerLysProLysAlaIleArgArgAlaCysAsnProGlnGluCysSerGlnProValTrpValThrGlyGluTrpGluProCysSerGlnThrCysGlyArgThrGlyMetGlnValArgSerValArgCysIleGlnProLeuHisAspAsnThrThrArgSerValHisAlaLysHisCysAsnAspAlaArgProGluSerArgArgAlaCysSerArgGluLeuCysProGlyArgTrpArgAlaGlyProTrpSerGlnCysSerValThrCysGlyAsnGlyThrGlnGluArgProValLeuCysArgThrAlaAspAspSerPheGlyIleCysGlnGluGluArgProGluThrAlaArgThrCysArgLeuGlyProCysProArgAsnIleSerAspProSerLysLysSerTyrValValGlnTrpLeuSerArgProAspProAspSerProIleArgLysIleSerSerLysGlyHisCysGlnGlyAspLysSerIlePheCysArgMetGluValLeuSerArgTyrCysSerIleProGlyTyrAsnLysLeuCysCysLysSerCysAsnLeuTyrAsnAsnLeuThrAsnValGluGlyArgIleGluProProProGlyLysHisAsnAspIleAspValPheMetProThrLeuProValProThrValAlaMetGluValArgProSerProSerThrProLeuGluValProLeuAsnAlaSerSerThrAsnAlaThrGluAspHisProGluThrAsnAlaValAspGluProTyrLysIleHisGlyLeuGluAspGluValGlnProProAsnLeuIleProArgArgProSerProTyrGluLysThrArgAsnGlnArgIleGlnGluLeuIleAspGluMetArgLysLysGluMetLeuGlyLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251582.12:c.2384G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014244.5:c.2384G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251582.7:p.Trp795Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055059.2:p.Trp795Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000518335.3:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489888.2:p.Trp795Ter",
        "hgvsWellDefined": "ENSP00000489888.2:p.Trp795_Pro1094delinsGluTyrArgAspGluAspGlyArgGluThrLeuGlnThrMetGlyProLeuHisGlyThrIleThrValLeuValIleProValGlyAspThrArgValSerLeuThrTyrLysTyrMetIleHisGluAspSerLeuAsnValAspAspAsnAsnValLeuGluGluAspSerValValTyrGluTrpAlaLeuLysLysTrpSerProCysSerLysProCysGlyGlyGlySerGlnPheThrLysTyrGlyCysArgArgArgLeuAspHisLysMetValHisArgGlyPheCysAlaAlaLeuSerLysProLysAlaIleArgArgAlaCysAsnProGlnGluCysSerGlnProValTrpValThrGlyGluTrpGluProCysSerGlnThrCysGlyArgThrGlyMetGlnValArgSerValArgCysIleGlnProLeuHisAspAsnThrThrArgSerValHisAlaLysHisCysAsnAspAlaArgProGluSerArgArgAlaCysSerArgGluLeuCysProGlyArgTrpArgAlaGlyProTrpSerGlnCysSerValThrCysGlyAsnGlyThrGlnGluArgProValLeuCysArgThrAlaAspAspSerPheGlyIleCysGlnGluGluArgProGluThrAlaArgThrCysArgLeuGlyProCysProArgAsnIleSerAspProSerLysLysSerTyrValValGlnTrpLeuSerArgProAspProAspSerProIleArgLysIleSerSerSerAsnArgProValTyrAsnSerAlaSerAlaLeuGlnCysMetProCysAlaLeuTrpSerLeuProTrpAlaProLeuLeuSerValTyrGlyLysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "ENST00000251582.11:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251582.7:p.Trp795Ter",
        "hgvsWellDefined": "ENSP00000251582.7:p.Trp795_Phe1211delinsGluTyrArgAspGluAspGlyArgGluThrLeuGlnThrMetGlyProLeuHisGlyThrIleThrValLeuValIleProValGlyAspThrArgValSerLeuThrTyrLysTyrMetIleHisGluAspSerLeuAsnValAspAspAsnAsnValLeuGluGluAspSerValValTyrGluTrpAlaLeuLysLysTrpSerProCysSerLysProCysGlyGlyGlySerGlnPheThrLysTyrGlyCysArgArgArgLeuAspHisLysMetValHisArgGlyPheCysAlaAlaLeuSerLysProLysAlaIleArgArgAlaCysAsnProGlnGluCysSerGlnProValTrpValThrGlyGluTrpGluProCysSerGlnThrCysGlyArgThrGlyMetGlnValArgSerValArgCysIleGlnProLeuHisAspAsnThrThrArgSerValHisAlaLysHisCysAsnAspAlaArgProGluSerArgArgAlaCysSerArgGluLeuCysProGlyArgTrpArgAlaGlyProTrpSerGlnCysSerValThrCysGlyAsnGlyThrGlnGluArgProValLeuCysArgThrAlaAspAspSerPheGlyIleCysGlnGluGluArgProGluThrAlaArgThrCysArgLeuGlyProCysProArgAsnIleSerAspProSerLysLysSerTyrValValGlnTrpLeuSerArgProAspProAspSerProIleArgLysIleSerSerLysGlyHisCysGlnGlyAspLysSerIlePheCysArgMetGluValLeuSerArgTyrCysSerIleProGlyTyrAsnLysLeuCysCysLysSerCysAsnLeuTyrAsnAsnLeuThrAsnValGluGlyArgIleGluProProProGlyLysHisAsnAspIleAspValPheMetProThrLeuProValProThrValAlaMetGluValArgProSerProSerThrProLeuGluValProLeuAsnAlaSerSerThrAsnAlaThrGluAspHisProGluThrAsnAlaValAspGluProTyrLysIleHisGlyLeuGluAspGluValGlnProProAsnLeuIleProArgArgProSerProTyrGluLysThrArgAsnGlnArgIleGlnGluLeuIleAspGluMetArgLysLysGluMetLeuGlyLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_014244.4:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055059.2:p.Trp795Ter",
        "hgvsWellDefined": "NP_055059.2:p.Trp795_Phe1211delinsGluTyrArgAspGluAspGlyArgGluThrLeuGlnThrMetGlyProLeuHisGlyThrIleThrValLeuValIleProValGlyAspThrArgValSerLeuThrTyrLysTyrMetIleHisGluAspSerLeuAsnValAspAspAsnAsnValLeuGluGluAspSerValValTyrGluTrpAlaLeuLysLysTrpSerProCysSerLysProCysGlyGlyGlySerGlnPheThrLysTyrGlyCysArgArgArgLeuAspHisLysMetValHisArgGlyPheCysAlaAlaLeuSerLysProLysAlaIleArgArgAlaCysAsnProGlnGluCysSerGlnProValTrpValThrGlyGluTrpGluProCysSerGlnThrCysGlyArgThrGlyMetGlnValArgSerValArgCysIleGlnProLeuHisAspAsnThrThrArgSerValHisAlaLysHisCysAsnAspAlaArgProGluSerArgArgAlaCysSerArgGluLeuCysProGlyArgTrpArgAlaGlyProTrpSerGlnCysSerValThrCysGlyAsnGlyThrGlnGluArgProValLeuCysArgThrAlaAspAspSerPheGlyIleCysGlnGluGluArgProGluThrAlaArgThrCysArgLeuGlyProCysProArgAsnIleSerAspProSerLysLysSerTyrValValGlnTrpLeuSerArgProAspProAspSerProIleArgLysIleSerSerLysGlyHisCysGlnGlyAspLysSerIlePheCysArgMetGluValLeuSerArgTyrCysSerIleProGlyTyrAsnLysLeuCysCysLysSerCysAsnLeuTyrAsnAsnLeuThrAsnValGluGlyArgIleGluProProProGlyLysHisAsnAspIleAspValPheMetProThrLeuProValProThrValAlaMetGluValArgProSerProSerThrProLeuGluValProLeuAsnAlaSerSerThrAsnAlaThrGluAspHisProGluThrAsnAlaValAspGluProTyrLysIleHisGlyLeuGluAspGluValGlnProProAsnLeuIleProArgArgProSerProTyrGluLysThrArgAsnGlnArgIleGlnGluLeuIleAspGluMetArgLysLysGluMetLeuGlyLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117559",
      "coordinates": [
        {
          "allele": "A",
          "end": 2517,
          "referenceAllele": "G",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000218",
      "geneNCBI_id": 9509,
      "geneSymbol": "ADAMTS2",
      "hgvs": [
        "NM_014244.5:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055059.2:p.Trp795Ter",
        "hgvsWellDefined": "NP_055059.2:p.Trp795_Phe1211delinsGluTyrArgAspGluAspGlyArgGluThrLeuGlnThrMetGlyProLeuHisGlyThrIleThrValLeuValIleProValGlyAspThrArgValSerLeuThrTyrLysTyrMetIleHisGluAspSerLeuAsnValAspAspAsnAsnValLeuGluGluAspSerValValTyrGluTrpAlaLeuLysLysTrpSerProCysSerLysProCysGlyGlyGlySerGlnPheThrLysTyrGlyCysArgArgArgLeuAspHisLysMetValHisArgGlyPheCysAlaAlaLeuSerLysProLysAlaIleArgArgAlaCysAsnProGlnGluCysSerGlnProValTrpValThrGlyGluTrpGluProCysSerGlnThrCysGlyArgThrGlyMetGlnValArgSerValArgCysIleGlnProLeuHisAspAsnThrThrArgSerValHisAlaLysHisCysAsnAspAlaArgProGluSerArgArgAlaCysSerArgGluLeuCysProGlyArgTrpArgAlaGlyProTrpSerGlnCysSerValThrCysGlyAsnGlyThrGlnGluArgProValLeuCysArgThrAlaAspAspSerPheGlyIleCysGlnGluGluArgProGluThrAlaArgThrCysArgLeuGlyProCysProArgAsnIleSerAspProSerLysLysSerTyrValValGlnTrpLeuSerArgProAspProAspSerProIleArgLysIleSerSerLysGlyHisCysGlnGlyAspLysSerIlePheCysArgMetGluValLeuSerArgTyrCysSerIleProGlyTyrAsnLysLeuCysCysLysSerCysAsnLeuTyrAsnAsnLeuThrAsnValGluGlyArgIleGluProProProGlyLysHisAsnAspIleAspValPheMetProThrLeuProValProThrValAlaMetGluValArgProSerProSerThrProLeuGluValProLeuAsnAlaSerSerThrAsnAlaThrGluAspHisProGluThrAsnAlaValAspGluProTyrLysIleHisGlyLeuGluAspGluValGlnProProAsnLeuIleProArgArgProSerProTyrGluLysThrArgAsnGlnArgIleGlnGluLeuIleAspGluMetArgLysLysGluMetLeuGlyLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251582.12:c.2384G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014244.5:c.2384G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251582.7:p.Trp795Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055059.2:p.Trp795Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}