{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11023069",
  "communityStandardTitle": [
    "NM_004257.6(TGFBRAP1):c.1122-560A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.105897740T>G?assembly=hg19",
        "id": "chr2:g.105897740T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.105281283T>G?assembly=hg38",
        "id": "chr2:g.105281283T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1020064",
        "rs": 1020064
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-105897740-T-G?dataset=gnomad_r2_1",
        "id": "2-105897740-T-G",
        "variant": "2:105897740 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-105281283-T-G?dataset=gnomad_r3",
        "id": "2-105281283-T-G",
        "variant": "2:105281283 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-105281283-T-G?dataset=gnomad_r4",
        "id": "2-105281283-T-G",
        "variant": "2:105281283 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 105281283,
          "referenceAllele": "T",
          "start": 105281282
        }
      ],
      "hgvs": [
        "NC_000002.12:g.105281283T>G",
        "CM000664.2:g.105281283T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 105897740,
          "referenceAllele": "T",
          "start": 105897739
        }
      ],
      "hgvs": [
        "NC_000002.11:g.105897740T>G",
        "CM000664.1:g.105897740T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 105264172,
          "referenceAllele": "T",
          "start": 105264171
        }
      ],
      "hgvs": [
        "NC_000002.10:g.105264172T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53432,
          "referenceAllele": "A",
          "start": 53431
        }
      ],
      "hgvs": [
        "NG_050952.1:g.53432A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616842"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "ENST00000393359.7:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377027.2:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753121",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393359.7:c.1122-560A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004257.6:c.1122-560A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377027.2:n.1122-560A>C"
          },
          "RefSeq": {
            "hgvs": "NP_004248.2:n.1122-560A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1141,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "ENST00000258449.2:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258449.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1548,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1548,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "ENST00000393359.6:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377027.2:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1141,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "ENST00000595531.5:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471434.2:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1225,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_001142621.2:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136093.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1228,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_004257.5:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004248.2:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1138,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "XM_011512193.1:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510495.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1185,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_001328646.1:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315575.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1170,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NR_137328.1:n.1171-560A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "endIntronDirection": "-",
          "endIntronOffset": 540,
          "referenceAllele": "A",
          "start": 884,
          "startIntronDirection": "-",
          "startIntronOffset": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "XM_017005339.2:c.-158-541A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860828.1:n.-158-541A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_004257.6:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004248.2:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393359.7:c.1122-560A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004257.6:c.1122-560A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377027.2:n.1122-560A>C"
          },
          "RefSeq": {
            "hgvs": "NP_004248.2:n.1122-560A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1246,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_001142621.3:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136093.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_001328646.2:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315575.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NM_001328646.3:c.1122-560A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315575.1:n.1122-560A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "-",
          "endIntronOffset": 559,
          "referenceAllele": "A",
          "start": 1249,
          "startIntronDirection": "-",
          "startIntronOffset": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016836",
      "geneNCBI_id": 9392,
      "geneSymbol": "TGFBRAP1",
      "hgvs": [
        "NR_137328.2:n.1250-560A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731047"
    }
  ],
  "type": "nucleotide"
}