{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020791",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27544[alleleid]",
        "alleleId": 27544,
        "preferredName": "NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12505",
        "RCV": [
          "RCV000013329"
        ],
        "variationId": 12505
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30713598T>C?assembly=hg19",
        "id": "chr3:g.30713598T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30672106T>C?assembly=hg38",
        "id": "chr3:g.30672106T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28934568",
        "rs": 28934568
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30672106,
          "referenceAllele": "T",
          "start": 30672105
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30672106T>C",
        "CM000665.2:g.30672106T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30713598,
          "referenceAllele": "T",
          "start": 30713597
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30713598T>C",
        "CM000665.1:g.30713598T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30688602,
          "referenceAllele": "T",
          "start": 30688601
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30688602T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70605,
          "referenceAllele": "T",
          "start": 70604
        }
      ],
      "hgvs": [
        "NG_007490.1:g.70605T>C",
        "LRG_779:g.70605T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.923T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Leu308Pro",
        "hgvsWellDefined": "ENSP00000295754.5:p.Leu308Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.923T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.923T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Leu308Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Leu308Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2519,
          "referenceAllele": "T",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2519T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.923T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Leu308Pro",
        "hgvsWellDefined": "ENSP00000295754.5:p.Leu308Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "T",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.998T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Leu333Pro",
        "hgvsWellDefined": "ENSP00000351905.4:p.Leu333Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281618",
      "coordinates": [
        {
          "allele": "C",
          "end": 1380,
          "referenceAllele": "T",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.998T>C",
        "LRG_779t1:c.998T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Leu333Pro",
        "hgvsWellDefined": "NP_001020018.1:p.Leu333Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109892",
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.923T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Leu308Pro",
        "hgvsWellDefined": "NP_003233.4:p.Leu308Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.950T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Leu317Pro",
        "hgvsWellDefined": "XP_011532345.1:p.Leu317Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 890,
          "referenceAllele": "T",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.875T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Leu292Pro",
        "hgvsWellDefined": "XP_011532346.1:p.Leu292Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 930,
          "referenceAllele": "T",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Leu273Pro",
        "hgvsWellDefined": "XP_011532347.1:p.Leu273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1153,
          "referenceAllele": "T",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.950T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Leu317Pro",
        "hgvsWellDefined": "XP_011532345.1:p.Leu317Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Leu273Pro",
        "hgvsWellDefined": "XP_011532347.1:p.Leu273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2519,
          "referenceAllele": "T",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Leu273Pro",
        "hgvsWellDefined": "XP_016862595.1:p.Leu273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109892",
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.923T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Leu308Pro",
        "hgvsWellDefined": "NP_003233.4:p.Leu308Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.923T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.923T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Leu308Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Leu308Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}