{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11356422",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.94+1595A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30650064A>G?assembly=hg19",
        "id": "chr3:g.30650064A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30608572A>G?assembly=hg38",
        "id": "chr3:g.30608572A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6550005",
        "rs": 6550005
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30650064-A-G?dataset=gnomad_r2_1",
        "id": "3-30650064-A-G",
        "variant": "3:30650064 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30608572-A-G?dataset=gnomad_r3",
        "id": "3-30608572-A-G",
        "variant": "3:30608572 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30608572-A-G?dataset=gnomad_r4",
        "id": "3-30608572-A-G",
        "variant": "3:30608572 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30608572,
          "referenceAllele": "A",
          "start": 30608571
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30608572A>G",
        "CM000665.2:g.30608572A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30650064,
          "referenceAllele": "A",
          "start": 30650063
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30650064A>G",
        "CM000665.1:g.30650064A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30625068,
          "referenceAllele": "A",
          "start": 30625067
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30625068A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7071,
          "referenceAllele": "A",
          "start": 7070
        }
      ],
      "hgvs": [
        "NG_007490.1:g.7071A>G",
        "LRG_779:g.7071A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "A",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.94+1595A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:n.94+1595A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.94+1595A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.94+1595A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:n.94+1595A>G"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:n.94+1595A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "A",
          "start": 476,
          "startIntronDirection": "+",
          "startIntronOffset": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.94+1595A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:n.94+1595A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "A",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.94+1595A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:n.94+1595A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "A",
          "start": 476,
          "startIntronDirection": "+",
          "startIntronOffset": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.94+1595A>G",
        "LRG_779t1:c.94+1595A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:n.94+1595A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "A",
          "start": 476,
          "startIntronDirection": "+",
          "startIntronOffset": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.94+1595A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:n.94+1595A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "endIntronDirection": "+",
          "endIntronOffset": 1979,
          "referenceAllele": "A",
          "start": 101,
          "startIntronDirection": "+",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.-12+1979A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:n.-12+1979A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 1979,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.-12+1979A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:n.-12+1979A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 1595,
          "referenceAllele": "A",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.94+1595A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:n.94+1595A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.94+1595A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.94+1595A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:n.94+1595A>G"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:n.94+1595A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}