{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351808609",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016231[alleleid]",
        "alleleId": 1016231,
        "preferredName": "NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028591",
        "RCV": [
          "RCV001329672",
          "RCV002246310",
          "RCV002546347"
        ],
        "variationId": 1028591
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30713809G>C?assembly=hg19",
        "id": "chr3:g.30713809G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30672317G>C?assembly=hg38",
        "id": "chr3:g.30672317G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575158079",
        "rs": 1575158079
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30672317,
          "referenceAllele": "G",
          "start": 30672316
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30672317G>C",
        "CM000665.2:g.30672317G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30713809,
          "referenceAllele": "G",
          "start": 30713808
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30713809G>C",
        "CM000665.1:g.30713809G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30688813,
          "referenceAllele": "G",
          "start": 30688812
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30688813G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70816,
          "referenceAllele": "G",
          "start": 70815
        }
      ],
      "hgvs": [
        "NG_007490.1:g.70816G>C",
        "LRG_779:g.70816G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1134G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg378Ser",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1134G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1134G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg378Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg378Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2730G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1134G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg378Ser",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Arg403Ser",
        "hgvsWellDefined": "ENSP00000351905.4:p.Arg403Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956993",
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1209G>C",
        "LRG_779t1:c.1209G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Arg403Ser",
        "hgvsWellDefined": "NP_001020018.1:p.Arg403Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426267",
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1134G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg378Ser",
        "hgvsWellDefined": "NP_003233.4:p.Arg378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1161G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg387Ser",
        "hgvsWellDefined": "XP_011532345.1:p.Arg387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1086G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Arg362Ser",
        "hgvsWellDefined": "XP_011532346.1:p.Arg362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1029G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg343Ser",
        "hgvsWellDefined": "XP_011532347.1:p.Arg343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1161G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg387Ser",
        "hgvsWellDefined": "XP_011532345.1:p.Arg387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1029G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg343Ser",
        "hgvsWellDefined": "XP_011532347.1:p.Arg343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1029G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Arg343Ser",
        "hgvsWellDefined": "XP_016862595.1:p.Arg343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426267",
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1134G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg378Ser",
        "hgvsWellDefined": "NP_003233.4:p.Arg378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1134G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1134G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg378Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg378Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}