{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042310",
  "communityStandardTitle": [
    "NM_003238.6(TGFB2):c.644-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359232[alleleid]",
        "alleleId": 359232,
        "preferredName": "NM_003238.6(TGFB2):c.644-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372857",
        "RCV": [
          "RCV000413467"
        ],
        "variationId": 372857
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.218607678A>G?assembly=hg19",
        "id": "chr1:g.218607678A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.218434336A>G?assembly=hg38",
        "id": "chr1:g.218434336A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518029",
        "rs": 1057518029
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 218434336,
          "referenceAllele": "A",
          "start": 218434335
        }
      ],
      "hgvs": [
        "NC_000001.11:g.218434336A>G",
        "CM000663.2:g.218434336A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 218607678,
          "referenceAllele": "A",
          "start": 218607677
        }
      ],
      "hgvs": [
        "NC_000001.10:g.218607678A>G",
        "CM000663.1:g.218607678A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 216674301,
          "referenceAllele": "A",
          "start": 216674300
        }
      ],
      "hgvs": [
        "NC_000001.9:g.216674301A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94003,
          "referenceAllele": "A",
          "start": 94002
        }
      ],
      "hgvs": [
        "NG_027721.1:g.94003A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94003,
          "referenceAllele": "A",
          "start": 94002
        }
      ],
      "hgvs": [
        "NG_027721.2:g.94003A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616271"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2009,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2009,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000366930.9:c.644-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355897.4:n.644-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.644-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.644-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:n.644-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:n.644-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1194,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000366929.4:c.728-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355896.4:n.728-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1110,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1110,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000366930.8:c.644-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355897.4:n.644-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "ENST00000479322.1:n.128-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2095,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2095,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.2:c.728-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:n.728-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2011,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.3:c.644-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:n.644-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2145,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2145,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.3:c.728-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:n.728-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2061,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.4:c.644-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:n.644-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2061,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.1:n.2062-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2145,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2145,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.1:n.2146-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2009,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2009,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.5:c.644-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:n.644-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2009,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2009,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.6:c.644-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:n.644-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695762",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.644-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.644-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:n.644-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:n.644-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2093,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2093,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.4:c.728-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:n.728-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2009,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2009,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.2:n.2010-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2093,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2093,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.2:n.2094-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731095"
    }
  ],
  "type": "nucleotide"
}