{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020555",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27541[alleleid]",
        "alleleId": 27541,
        "preferredName": "NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12502",
        "RCV": [
          "RCV000013325",
          "RCV000247266",
          "RCV000290470",
          "RCV000344037",
          "RCV000626289",
          "RCV001094839",
          "RCV001310481",
          "RCV002276544"
        ],
        "variationId": 12502
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-30713619-C-T",
        "id": "3-30713619-C-T",
        "variant": "3:30713619 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30713619C>T?assembly=hg19",
        "id": "chr3:g.30713619C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30672127C>T?assembly=hg38",
        "id": "chr3:g.30672127C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34833812",
        "rs": 34833812
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30713619-C-T?dataset=gnomad_r2_1",
        "id": "3-30713619-C-T",
        "variant": "3:30713619 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30672127-C-T?dataset=gnomad_r3",
        "id": "3-30672127-C-T",
        "variant": "3:30672127 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30672127-C-T?dataset=gnomad_r4",
        "id": "3-30672127-C-T",
        "variant": "3:30672127 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30672127,
          "referenceAllele": "C",
          "start": 30672126
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30672127C>T",
        "CM000665.2:g.30672127C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30713619,
          "referenceAllele": "C",
          "start": 30713618
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30713619C>T",
        "CM000665.1:g.30713619C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30688623,
          "referenceAllele": "C",
          "start": 30688622
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30688623C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70626,
          "referenceAllele": "C",
          "start": 70625
        }
      ],
      "hgvs": [
        "NG_007490.1:g.70626C>T",
        "LRG_779:g.70626C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.944C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Thr315Met",
        "hgvsWellDefined": "ENSP00000295754.5:p.Thr315Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.944C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.944C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Thr315Met"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Thr315Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2540C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.944C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Thr315Met",
        "hgvsWellDefined": "ENSP00000295754.5:p.Thr315Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1019C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Thr340Met",
        "hgvsWellDefined": "ENSP00000351905.4:p.Thr340Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122446",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1019C>T",
        "LRG_779t1:c.1019C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Thr340Met",
        "hgvsWellDefined": "NP_001020018.1:p.Thr340Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109918",
      "coordinates": [
        {
          "allele": "T",
          "end": 1326,
          "referenceAllele": "C",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.944C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Thr315Met",
        "hgvsWellDefined": "NP_003233.4:p.Thr315Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.971C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Thr324Met",
        "hgvsWellDefined": "XP_011532345.1:p.Thr324Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Thr299Met",
        "hgvsWellDefined": "XP_011532346.1:p.Thr299Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Thr280Met",
        "hgvsWellDefined": "XP_011532347.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.971C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Thr324Met",
        "hgvsWellDefined": "XP_011532345.1:p.Thr324Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "C",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Thr280Met",
        "hgvsWellDefined": "XP_011532347.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Thr280Met",
        "hgvsWellDefined": "XP_016862595.1:p.Thr280Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109918",
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.944C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Thr315Met",
        "hgvsWellDefined": "NP_003233.4:p.Thr315Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.944C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.944C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Thr315Met"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Thr315Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}