{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2168883",
  "communityStandardTitle": [
    "NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1669850",
        "active": true,
        "id": "COSM1669850"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971557[alleleid]",
        "alleleId": 971557,
        "preferredName": "NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983491",
        "RCV": [
          "RCV001375908",
          "RCV003235521",
          "RCV002298919",
          "RCV003660879"
        ],
        "variationId": 983491
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-233408368-C-T",
        "id": "2-233408368-C-T",
        "variant": "2:233408368 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233408368C>T?assembly=hg19",
        "id": "chr2:g.233408368C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232543658C>T?assembly=hg38",
        "id": "chr2:g.232543658C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/567899708",
        "rs": 567899708
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233408368-C-T?dataset=gnomad_r2_1",
        "id": "2-233408368-C-T",
        "variant": "2:233408368 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232543658-C-T?dataset=gnomad_r3",
        "id": "2-232543658-C-T",
        "variant": "2:232543658 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232543658-C-T?dataset=gnomad_r4",
        "id": "2-232543658-C-T",
        "variant": "2:232543658 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 232543658,
          "referenceAllele": "C",
          "start": 232543657
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232543658C>T",
        "CM000664.2:g.232543658C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 233408368,
          "referenceAllele": "C",
          "start": 233408367
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233408368C>T",
        "CM000664.1:g.233408368C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 233116612,
          "referenceAllele": "C",
          "start": 233116611
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233116612C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8932,
          "referenceAllele": "C",
          "start": 8931
        }
      ],
      "hgvs": [
        "NG_012954.1:g.8932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8967,
          "referenceAllele": "C",
          "start": 8966
        }
      ],
      "hgvs": [
        "NG_012954.2:g.8967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000651502.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498757.1:p.Arg332Trp",
        "hgvsWellDefined": "ENSP00000498757.1:p.Arg332Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.994C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.994C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.Arg332Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.Arg332Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389492.3:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374143.3:p.Arg280Trp",
        "hgvsWellDefined": "ENSP00000374143.3:p.Arg280Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389494.7:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374145.3:p.Arg332Trp",
        "hgvsWellDefined": "ENSP00000374145.3:p.Arg332Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270336",
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.4:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.Arg332Trp",
        "hgvsWellDefined": "NP_005190.4:p.Arg332Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270336",
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.5:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.Arg332Trp",
        "hgvsWellDefined": "NP_005190.4:p.Arg332Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.994C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.994C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.Arg332Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.Arg332Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}