{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2825672",
  "communityStandardTitle": [
    "NM_001388492.1(HTT):c.8356G>A (p.Val2786Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM447795"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1604463[alleleid]",
        "alleleId": 1604463,
        "preferredName": "NM_001388492.1(HTT):c.8356G>A (p.Val2786Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1531045",
        "RCV": [
          "RCV002092237"
        ],
        "variationId": 1531045
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-3234980-G-A",
        "id": "4-3234980-G-A",
        "variant": "4:3234980 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3234980G>A?assembly=hg19",
        "id": "chr4:g.3234980G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.3233253G>A?assembly=hg38",
        "id": "chr4:g.3233253G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/362272",
        "rs": 362272
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3234980-G-A?dataset=gnomad_r2_1",
        "id": "4-3234980-G-A",
        "variant": "4:3234980 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3233253-G-A?dataset=gnomad_r3",
        "id": "4-3233253-G-A",
        "variant": "4:3233253 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-3233253-G-A?dataset=gnomad_r4",
        "id": "4-3233253-G-A",
        "variant": "4:3233253 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3233253,
          "referenceAllele": "G",
          "start": 3233252
        }
      ],
      "hgvs": [
        "NC_000004.12:g.3233253G>A",
        "CM000666.2:g.3233253G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3234980,
          "referenceAllele": "G",
          "start": 3234979
        }
      ],
      "hgvs": [
        "NC_000004.11:g.3234980G>A",
        "CM000666.1:g.3234980G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 3204778,
          "referenceAllele": "G",
          "start": 3204777
        }
      ],
      "hgvs": [
        "NC_000004.10:g.3204778G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163579,
          "referenceAllele": "G",
          "start": 163578
        }
      ],
      "hgvs": [
        "NG_009378.1:g.163579G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001580"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8501,
          "referenceAllele": "G",
          "start": 8500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000355072.11:c.8356G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347184.5:p.Val2786Ile",
        "hgvsWellDefined": "ENSP00000347184.5:p.Val2786Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355072.11:c.8356G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001388492.1:c.8356G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347184.5:p.Val2786Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001375421.1:p.Val2786Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8501,
          "referenceAllele": "G",
          "start": 8500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000355072.10:c.8356G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347184.5:p.Val2786Ile",
        "hgvsWellDefined": "ENSP00000347184.5:p.Val2786Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8976,
          "referenceAllele": "G",
          "start": 8975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000680239.1:c.8098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506169.1:p.Val2700Ile",
        "hgvsWellDefined": "ENSP00000506169.1:p.Val2700Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9017,
          "referenceAllele": "G",
          "start": 9016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000680360.1:c.*1563G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505014.1:n.*1563G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8976,
          "referenceAllele": "G",
          "start": 8975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000680956.1:c.8098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506029.1:p.Val2700Ile",
        "hgvsWellDefined": "ENSP00000506029.1:p.Val2700Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9066,
          "referenceAllele": "G",
          "start": 9065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000681528.1:c.8188G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506116.1:p.Val2730Ile",
        "hgvsWellDefined": "ENSP00000506116.1:p.Val2730Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8501,
          "referenceAllele": "G",
          "start": 8500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000355072.9:c.8356G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347184.5:p.Val2786Ile",
        "hgvsWellDefined": "ENSP00000347184.5:p.Val2786Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9484,
          "referenceAllele": "G",
          "start": 9483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000510626.5:n.9484G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 2030,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "ENST00000513806.1:n.320-2031G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573219934",
      "coordinates": [
        {
          "allele": "A",
          "end": 8678,
          "referenceAllele": "G",
          "start": 8677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "NM_002111.7:c.8362G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002102.4:p.Val2788Ile",
        "hgvsWellDefined": "NP_002102.4:p.Val2788Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573219934",
      "coordinates": [
        {
          "allele": "A",
          "end": 8507,
          "referenceAllele": "G",
          "start": 8506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "NM_002111.8:c.8362G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002102.4:p.Val2788Ile",
        "hgvsWellDefined": "NP_002102.4:p.Val2788Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829180282",
      "coordinates": [
        {
          "allele": "A",
          "end": 8501,
          "referenceAllele": "G",
          "start": 8500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004851",
      "geneNCBI_id": 3064,
      "geneSymbol": "HTT",
      "hgvs": [
        "NM_001388492.1:c.8356G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001375421.1:p.Val2786Ile",
        "hgvsWellDefined": "NP_001375421.1:p.Val2786Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355072.11:c.8356G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001388492.1:c.8356G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347184.5:p.Val2786Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001375421.1:p.Val2786Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}