{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11015008",
  "communityStandardTitle": [
    "NM_001291746.2(REL):c.302+3170T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.61124850T>C?assembly=hg19",
        "id": "chr2:g.61124850T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.60897715T>C?assembly=hg38",
        "id": "chr2:g.60897715T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34695944",
        "rs": 34695944
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-61124850-T-C?dataset=gnomad_r2_1",
        "id": "2-61124850-T-C",
        "variant": "2:61124850 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-60897715-T-C?dataset=gnomad_r3",
        "id": "2-60897715-T-C",
        "variant": "2:60897715 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-60897715-T-C?dataset=gnomad_r4",
        "id": "2-60897715-T-C",
        "variant": "2:60897715 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 60897715,
          "referenceAllele": "T",
          "start": 60897714
        }
      ],
      "hgvs": [
        "NC_000002.12:g.60897715T>C",
        "CM000664.2:g.60897715T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 61124850,
          "referenceAllele": "T",
          "start": 61124849
        }
      ],
      "hgvs": [
        "NC_000002.11:g.61124850T>C",
        "CM000664.1:g.61124850T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 60978354,
          "referenceAllele": "T",
          "start": 60978353
        }
      ],
      "hgvs": [
        "NC_000002.10:g.60978354T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 652,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000699191.1:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514191.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000699192.1:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514192.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 501,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000699193.1:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514193.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000699194.1:n.253+3170T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000394479.4:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377989.4:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753265",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394479.4:c.302+3170T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291746.2:c.302+3170T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377989.4:n.302+3170T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001278675.1:n.302+3170T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 1254,
          "referenceAllele": "T",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000642725.1:c.150-1255T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496299.1:n.150-1255T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000295025.12:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295025.7:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 487,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 487,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "ENST00000394479.3:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377989.3:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 648,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "NM_001291746.1:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278675.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 648,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "NM_002908.3:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002899.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "XM_017004627.2:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860116.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "NM_001291746.2:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278675.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682862",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394479.4:c.302+3170T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001291746.2:c.302+3170T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377989.4:n.302+3170T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001278675.1:n.302+3170T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "endIntronDirection": "+",
          "endIntronOffset": 3170,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "+",
          "startIntronOffset": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009954",
      "geneNCBI_id": 5966,
      "geneSymbol": "REL",
      "hgvs": [
        "NM_002908.4:c.302+3170T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002899.1:n.302+3170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695681"
    }
  ],
  "type": "nucleotide"
}