{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11070889",
  "communityStandardTitle": [
    "NM_002398.3(MEIS1):c.965+6302T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.66781453T>G?assembly=hg19",
        "id": "chr2:g.66781453T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.66554321T>G?assembly=hg38",
        "id": "chr2:g.66554321T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2300478",
        "rs": 2300478
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-66781453-T-G?dataset=gnomad_r2_1",
        "id": "2-66781453-T-G",
        "variant": "2:66781453 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-66554321-T-G?dataset=gnomad_r3",
        "id": "2-66554321-T-G",
        "variant": "2:66554321 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-66554321-T-G?dataset=gnomad_r4",
        "id": "2-66554321-T-G",
        "variant": "2:66554321 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 66554321,
          "referenceAllele": "T",
          "start": 66554320
        }
      ],
      "hgvs": [
        "NC_000002.12:g.66554321T>G",
        "CM000664.2:g.66554321T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 66781453,
          "referenceAllele": "T",
          "start": 66781452
        }
      ],
      "hgvs": [
        "NC_000002.11:g.66781453T>G",
        "CM000664.1:g.66781453T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 66634957,
          "referenceAllele": "T",
          "start": 66634956
        }
      ],
      "hgvs": [
        "NC_000002.10:g.66634957T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123922,
          "referenceAllele": "T",
          "start": 123921
        }
      ],
      "hgvs": [
        "NG_011467.1:g.123922T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001735"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1697,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000272369.14:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272369.8:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272369.14:c.965+6302T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002398.3:c.965+6302T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272369.8:n.965+6302T>G"
          },
          "RefSeq": {
            "hgvs": "NP_002389.1:n.965+6302T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1422,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000272369.13:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272369.8:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1297,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1297,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000398506.6:c.959+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381518.2:n.959+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000409517.5:n.279+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS281618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000450027.2:n.420+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000475239.5:n.525+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000488550.5:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475161.1:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1077,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1077,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000495021.6:c.770+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440571.1:n.770+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000542964.5:n.398+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000560281.6:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454209.1:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "ENST00000606455.5:n.419+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1422,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "NM_002398.2:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002389.1:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XM_005264321.1:c.1013+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264378.1:n.1013+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1697,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XM_005264322.1:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264379.1:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XM_005264323.1:c.1013+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264380.1:n.1013+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XM_005264324.3:c.770+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264381.1:n.770+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XM_005264325.3:c.770+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264382.1:n.770+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1599,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1599,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XR_244932.1:n.1599+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1599,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1599,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "XR_244933.1:n.1599+6302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "endIntronDirection": "+",
          "endIntronOffset": 6302,
          "referenceAllele": "T",
          "start": 1697,
          "startIntronDirection": "+",
          "startIntronOffset": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007000",
      "geneNCBI_id": 4211,
      "geneSymbol": "MEIS1",
      "hgvs": [
        "NM_002398.3:c.965+6302T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002389.1:n.965+6302T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272369.14:c.965+6302T>G"
          },
          "RefSeq": {
            "hgvs": "NM_002398.3:c.965+6302T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272369.8:n.965+6302T>G"
          },
          "RefSeq": {
            "hgvs": "NP_002389.1:n.965+6302T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}