{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2168928",
  "communityStandardTitle": [
    "NM_005199.5(CHRNG):c.1074C>T (p.His358=)",
    "NM_145702.4(TIGD1):c.*3702G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=285960[alleleid]",
        "alleleId": 285960,
        "preferredName": "NM_005199.5(CHRNG):c.1074C>T (p.His358=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/335010",
        "RCV": [
          "RCV000284054",
          "RCV000922574",
          "RCV001094666"
        ],
        "variationId": 335010
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-233409115-C-T",
        "id": "2-233409115-C-T",
        "variant": "2:233409115 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233409115C>T?assembly=hg19",
        "id": "chr2:g.233409115C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232544405C>T?assembly=hg38",
        "id": "chr2:g.232544405C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761581720",
        "rs": 761581720
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233409115-C-T?dataset=gnomad_r2_1",
        "id": "2-233409115-C-T",
        "variant": "2:233409115 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232544405-C-T?dataset=gnomad_r3",
        "id": "2-232544405-C-T",
        "variant": "2:232544405 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232544405-C-T?dataset=gnomad_r4",
        "id": "2-232544405-C-T",
        "variant": "2:232544405 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 232544405,
          "referenceAllele": "C",
          "start": 232544404
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232544405C>T",
        "CM000664.2:g.232544405C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 233409115,
          "referenceAllele": "C",
          "start": 233409114
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233409115C>T",
        "CM000664.1:g.233409115C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 233117359,
          "referenceAllele": "C",
          "start": 233117358
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233117359C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9679,
          "referenceAllele": "C",
          "start": 9678
        }
      ],
      "hgvs": [
        "NG_012954.1:g.9679C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9714,
          "referenceAllele": "C",
          "start": 9713
        }
      ],
      "hgvs": [
        "NG_012954.2:g.9714C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6153,
          "referenceAllele": "G",
          "start": 6152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014523",
      "geneNCBI_id": 200765,
      "geneSymbol": "TIGD1",
      "hgvs": [
        "ENST00000408957.7:c.*3702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386186.3:n.*3702G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000408957.7:c.*3702G>A"
          },
          "RefSeq": {
            "hgvs": "NM_145702.4:c.*3702G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386186.3:n.*3702G>A"
          },
          "RefSeq": {
            "hgvs": "NP_663748.1:n.*3702G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000651502.1:c.1074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498757.1:p.His358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.1074C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.1074C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.His358="
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.His358="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389492.3:c.918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374143.3:p.His306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389494.7:c.1074C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374145.3:p.His358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829584047",
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.4:c.1074C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.His358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829584047",
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.5:c.1074C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.His358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.1074C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.1074C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.His358="
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.His358="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6153,
          "referenceAllele": "G",
          "start": 6152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014523",
      "geneNCBI_id": 200765,
      "geneSymbol": "TIGD1",
      "hgvs": [
        "NM_145702.4:c.*3702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_663748.1:n.*3702G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700032",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000408957.7:c.*3702G>A"
          },
          "RefSeq": {
            "hgvs": "NM_145702.4:c.*3702G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386186.3:n.*3702G>A"
          },
          "RefSeq": {
            "hgvs": "NP_663748.1:n.*3702G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}