{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10636805",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.*2185C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=323753[alleleid]",
        "alleleId": 323753,
        "preferredName": "NM_000314.8(PTEN):c.*2185C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/301483",
        "RCV": [
          "RCV000314944"
        ],
        "variationId": 301483
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89727414C>T?assembly=hg19",
        "id": "chr10:g.89727414C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.87967657C>T?assembly=hg38",
        "id": "chr10:g.87967657C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11202607",
        "rs": 11202607
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-89727414-C-T?dataset=gnomad_r2_1",
        "id": "10-89727414-C-T",
        "variant": "10:89727414 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-87967657-C-T?dataset=gnomad_r3",
        "id": "10-87967657-C-T",
        "variant": "10:87967657 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-87967657-C-T?dataset=gnomad_r4",
        "id": "10-87967657-C-T",
        "variant": "10:87967657 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 87967657,
          "referenceAllele": "C",
          "start": 87967656
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87967657C>T",
        "CM000672.2:g.87967657C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89727414,
          "referenceAllele": "C",
          "start": 89727413
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89727414C>T",
        "CM000672.1:g.89727414C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89717394,
          "referenceAllele": "C",
          "start": 89717393
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89717394C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109219,
          "referenceAllele": "C",
          "start": 109218
        }
      ],
      "hgvs": [
        "NG_007466.2:g.109219C>T",
        "LRG_311:g.109219C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4306,
          "referenceAllele": "C",
          "start": 4305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.*2426C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:n.*2426C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4132,
          "referenceAllele": "C",
          "start": 4131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.2:n.4132C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3493,
          "referenceAllele": "C",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4412,
          "referenceAllele": "C",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.*3432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:n.*3432C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4488,
          "referenceAllele": "C",
          "start": 4487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.*3508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:n.*3508C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4428,
          "referenceAllele": "C",
          "start": 4427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4242,
          "referenceAllele": "C",
          "start": 4241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.*2185C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.*2185C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:n.*2185C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:n.*2185C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4754,
          "referenceAllele": "C",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4428,
          "referenceAllele": "C",
          "start": 4427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4428,
          "referenceAllele": "C",
          "start": 4427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4428,
          "referenceAllele": "C",
          "start": 4427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "referenceAllele": "C",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4064,
          "referenceAllele": "C",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7081,
          "referenceAllele": "C",
          "start": 7080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539982.1:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538284.1:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.3967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4241,
          "referenceAllele": "C",
          "start": 4240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4241,
          "referenceAllele": "C",
          "start": 4240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4355,
          "referenceAllele": "C",
          "start": 4354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4242,
          "referenceAllele": "C",
          "start": 4241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.*2185C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.*2185C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.*2185C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.*2185C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:n.*2185C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:n.*2185C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}