{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15091686",
  "communityStandardTitle": [
    "NM_000748.3(CHRNB2):c.*313T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154548721T>C?assembly=hg19",
        "id": "chr1:g.154548721T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154576245T>C?assembly=hg38",
        "id": "chr1:g.154576245T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2072660",
        "rs": 2072660
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154548721-T-C?dataset=gnomad_r2_1",
        "id": "1-154548721-T-C",
        "variant": "1:154548721 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154576245-T-C?dataset=gnomad_r3",
        "id": "1-154576245-T-C",
        "variant": "1:154576245 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154576245-T-C?dataset=gnomad_r4",
        "id": "1-154576245-T-C",
        "variant": "1:154576245 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154576245,
          "referenceAllele": "T",
          "start": 154576244
        }
      ],
      "hgvs": [
        "NC_000001.11:g.154576245T>C",
        "CM000663.2:g.154576245T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154548721,
          "referenceAllele": "T",
          "start": 154548720
        }
      ],
      "hgvs": [
        "NC_000001.10:g.154548721T>C",
        "CM000663.1:g.154548721T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 152815345,
          "referenceAllele": "T",
          "start": 152815344
        }
      ],
      "hgvs": [
        "NC_000001.9:g.152815345T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13465,
          "referenceAllele": "T",
          "start": 13464
        }
      ],
      "hgvs": [
        "NG_008027.1:g.13465T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000784"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2089,
          "referenceAllele": "T",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "ENST00000368476.4:c.*313T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357461.3:n.*313T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368476.4:c.*313T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000748.3:c.*313T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357461.3:n.*313T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000739.1:n.*313T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1754,
          "endIntronDirection": "+",
          "endIntronOffset": 317,
          "referenceAllele": "T",
          "start": 1754,
          "startIntronDirection": "+",
          "startIntronOffset": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "ENST00000636034.1:c.1505+317T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489703.1:n.1505+317T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2038,
          "referenceAllele": "T",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "ENST00000637900.1:c.*313T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490474.1:n.*313T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "T",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "ENST00000368476.3:c.*313T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357461.3:n.*313T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "T",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "NM_000748.2:c.*313T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000739.1:n.*313T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1932,
          "referenceAllele": "T",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "XM_017000180.2:c.*313T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855669.1:n.*313T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "T",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "XR_001736952.2:n.2074T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2089,
          "referenceAllele": "T",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001962",
      "geneNCBI_id": 1141,
      "geneSymbol": "CHRNB2",
      "hgvs": [
        "NM_000748.3:c.*313T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000739.1:n.*313T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368476.4:c.*313T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000748.3:c.*313T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357461.3:n.*313T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000739.1:n.*313T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}