{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020628",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5020533"
      },
      {
        "active": false,
        "id": "COSM5020534"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53819[alleleid]",
        "alleleId": 53819,
        "preferredName": "NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44652",
        "RCV": [
          "RCV000037729",
          "RCV000249482",
          "RCV000287055",
          "RCV000397888",
          "RCV000617141",
          "RCV001094866",
          "RCV003148641"
        ],
        "variationId": 44652
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-30713842-C-T",
        "id": "3-30713842-C-T",
        "variant": "3:30713842 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30713842C>T?assembly=hg19",
        "id": "chr3:g.30713842C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30672350C>T?assembly=hg38",
        "id": "chr3:g.30672350C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2228048",
        "rs": 2228048
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30713842-C-T?dataset=gnomad_r2_1",
        "id": "3-30713842-C-T",
        "variant": "3:30713842 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30672350-C-T?dataset=gnomad_r3",
        "id": "3-30672350-C-T",
        "variant": "3:30672350 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30672350-C-T?dataset=gnomad_r4",
        "id": "3-30672350-C-T",
        "variant": "3:30672350 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30672350,
          "referenceAllele": "C",
          "start": 30672349
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30672350C>T",
        "CM000665.2:g.30672350C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30713842,
          "referenceAllele": "C",
          "start": 30713841
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30713842C>T",
        "CM000665.1:g.30713842C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30688846,
          "referenceAllele": "C",
          "start": 30688845
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30688846C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70849,
          "referenceAllele": "C",
          "start": 70848
        }
      ],
      "hgvs": [
        "NG_007490.1:g.70849C>T",
        "LRG_779:g.70849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1167C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Asn389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1167C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1167C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Asn389="
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Asn389="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2763,
          "referenceAllele": "C",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2763C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1167C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Asn389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1242C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Asn414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336774",
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1242C>T",
        "LRG_779t1:c.1242C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Asn414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426283",
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1167C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Asn389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1119C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Asn373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1062C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1062C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2763,
          "referenceAllele": "C",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1062C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426283",
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1167C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Asn389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1167C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1167C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Asn389="
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Asn389="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}