{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5725731",
  "communityStandardTitle": [
    "NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3751581"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=314432[alleleid]",
        "alleleId": 314432,
        "preferredName": "NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/299029",
        "RCV": [
          "RCV000316955",
          "RCV003983000"
        ],
        "variationId": 299029
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-124214355-C-T",
        "id": "10-124214355-C-T",
        "variant": "10:124214355 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124214355C>T?assembly=hg19",
        "id": "chr10:g.124214355C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.122454839C>T?assembly=hg38",
        "id": "chr10:g.122454839C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2736911",
        "rs": 2736911
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-124214355-C-T?dataset=gnomad_r2_1",
        "id": "10-124214355-C-T",
        "variant": "10:124214355 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-122454839-C-T?dataset=gnomad_r3",
        "id": "10-122454839-C-T",
        "variant": "10:122454839 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-122454839-C-T?dataset=gnomad_r4",
        "id": "10-122454839-C-T",
        "variant": "10:122454839 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 122454839,
          "referenceAllele": "C",
          "start": 122454838
        }
      ],
      "hgvs": [
        "NC_000010.11:g.122454839C>T",
        "CM000672.2:g.122454839C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 124214355,
          "referenceAllele": "C",
          "start": 124214354
        }
      ],
      "hgvs": [
        "NC_000010.10:g.124214355C>T",
        "CM000672.1:g.124214355C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 124204345,
          "referenceAllele": "C",
          "start": 124204344
        }
      ],
      "hgvs": [
        "NC_000010.9:g.124204345C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5177,
          "referenceAllele": "C",
          "start": 5176
        }
      ],
      "hgvs": [
        "NG_011725.1:g.5177C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001930"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032685",
      "geneNCBI_id": 387715,
      "geneSymbol": "ARMS2",
      "hgvs": [
        "ENST00000528446.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436682.1:p.Arg38Ter",
        "hgvsWellDefined": "ENSP00000436682.1:p.Arg38_Arg107delinsGluSerValLeuAspProGlyValGlyGlyGluGlyAlaSerAspLysGlnArgSerLysLeuSerLeuSerHisSerMetIleProAlaAlaLysIleHisThrGluLeuCysLeuProAlaPhePheSerProAlaGlyThrGlnArgArgPheGlnGlnProGlnHisHisLeuThrLeuSerIleIleHisThrAlaAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528446.1:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099667.3:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436682.1:p.Arg38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001093137.1:p.Arg38Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645375175",
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032685",
      "geneNCBI_id": 387715,
      "geneSymbol": "ARMS2",
      "hgvs": [
        "NM_001099667.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093137.1:p.Arg38Ter",
        "hgvsWellDefined": "NP_001093137.1:p.Arg38_Arg107delinsGluSerValLeuAspProGlyValGlyGlyGluGlyAlaSerAspLysGlnArgSerLysLeuSerLeuSerHisSerMetIleProAlaAlaLysIleHisThrGluLeuCysLeuProAlaPhePheSerProAlaGlyThrGlnArgArgPheGlnGlnProGlnHisHisLeuThrLeuSerIleIleHisThrAlaAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "endIntronDirection": "+",
          "endIntronOffset": 3656,
          "referenceAllele": "G",
          "start": 1827,
          "startIntronDirection": "+",
          "startIntronOffset": 3655
        }
      ],
      "hgvs": [
        "XR_946382.1:n.1827+3656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "endIntronDirection": "+",
          "endIntronOffset": 3656,
          "referenceAllele": "G",
          "start": 1827,
          "startIntronDirection": "+",
          "startIntronOffset": 3655
        }
      ],
      "hgvs": [
        "XR_946383.1:n.1827+3656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "endIntronDirection": "+",
          "endIntronOffset": 3656,
          "referenceAllele": "G",
          "start": 1576,
          "startIntronDirection": "+",
          "startIntronOffset": 3655
        }
      ],
      "hgvs": [
        "XR_946384.1:n.1576+3656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645375175",
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032685",
      "geneNCBI_id": 387715,
      "geneSymbol": "ARMS2",
      "hgvs": [
        "NM_001099667.2:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093137.1:p.Arg38Ter",
        "hgvsWellDefined": "NP_001093137.1:p.Arg38_Arg107delinsGluSerValLeuAspProGlyValGlyGlyGluGlyAlaSerAspLysGlnArgSerLysLeuSerLeuSerHisSerMetIleProAlaAlaLysIleHisThrGluLeuCysLeuProAlaPhePheSerProAlaGlyThrGlnArgArgPheGlnGlnProGlnHisHisLeuThrLeuSerIleIleHisThrAlaAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1855,
          "endIntronDirection": "+",
          "endIntronOffset": 3656,
          "referenceAllele": "G",
          "start": 1855,
          "startIntronDirection": "+",
          "startIntronOffset": 3655
        }
      ],
      "hgvs": [
        "XR_946382.2:n.1855+3656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1855,
          "endIntronDirection": "+",
          "endIntronOffset": 3656,
          "referenceAllele": "G",
          "start": 1855,
          "startIntronDirection": "+",
          "startIntronOffset": 3655
        }
      ],
      "hgvs": [
        "XR_946383.2:n.1855+3656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "endIntronDirection": "+",
          "endIntronOffset": 3656,
          "referenceAllele": "G",
          "start": 1580,
          "startIntronDirection": "+",
          "startIntronOffset": 3655
        }
      ],
      "hgvs": [
        "XR_946384.2:n.1580+3656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645375175",
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032685",
      "geneNCBI_id": 387715,
      "geneSymbol": "ARMS2",
      "hgvs": [
        "NM_001099667.3:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093137.1:p.Arg38Ter",
        "hgvsWellDefined": "NP_001093137.1:p.Arg38_Arg107delinsGluSerValLeuAspProGlyValGlyGlyGluGlyAlaSerAspLysGlnArgSerLysLeuSerLeuSerHisSerMetIleProAlaAlaLysIleHisThrGluLeuCysLeuProAlaPhePheSerProAlaGlyThrGlnArgArgPheGlnGlnProGlnHisHisLeuThrLeuSerIleIleHisThrAlaAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676512",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528446.1:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099667.3:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436682.1:p.Arg38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001093137.1:p.Arg38Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}