{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351806535",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3081064[alleleid]",
        "alleleId": 3081064,
        "preferredName": "NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2920260",
        "RCV": [
          "RCV003643495",
          "RCV004005930",
          "RCV004374368"
        ],
        "variationId": 2920260
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30686346A>G?assembly=hg19",
        "id": "chr3:g.30686346A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30644854A>G?assembly=hg38",
        "id": "chr3:g.30644854A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060501985",
        "rs": 1060501985
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30686346-A-G?dataset=gnomad_r2_1",
        "id": "3-30686346-A-G",
        "variant": "3:30686346 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30644854-A-G?dataset=gnomad_r3",
        "id": "3-30644854-A-G",
        "variant": "3:30644854 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30644854-A-G?dataset=gnomad_r4",
        "id": "3-30644854-A-G",
        "variant": "3:30644854 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30644854,
          "referenceAllele": "A",
          "start": 30644853
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30644854A>G",
        "CM000665.2:g.30644854A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30686346,
          "referenceAllele": "A",
          "start": 30686345
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30686346A>G",
        "CM000665.1:g.30686346A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30661350,
          "referenceAllele": "A",
          "start": 30661349
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30661350A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43353,
          "referenceAllele": "A",
          "start": 43352
        }
      ],
      "hgvs": [
        "NG_007490.1:g.43353A>G",
        "LRG_779:g.43353A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "A",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.202A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Met68Val",
        "hgvsWellDefined": "ENSP00000295754.5:p.Met68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.202A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.202A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Met68Val"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Met68Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.1798A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673250.1:n.326A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "A",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.202A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Met68Val",
        "hgvsWellDefined": "ENSP00000295754.5:p.Met68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "A",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Met93Val",
        "hgvsWellDefined": "ENSP00000351905.4:p.Met93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336525",
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "A",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.277A>G",
        "LRG_779t1:c.277A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Met93Val",
        "hgvsWellDefined": "NP_001020018.1:p.Met93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425895",
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "A",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.202A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Met68Val",
        "hgvsWellDefined": "NP_003233.4:p.Met68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "referenceAllele": "A",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.229A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Met77Val",
        "hgvsWellDefined": "XP_011532345.1:p.Met77Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 169,
          "referenceAllele": "A",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.154A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Met52Val",
        "hgvsWellDefined": "XP_011532346.1:p.Met52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "A",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.97A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Met33Val",
        "hgvsWellDefined": "XP_011532347.1:p.Met33Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.229A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Met77Val",
        "hgvsWellDefined": "XP_011532345.1:p.Met77Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "A",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.97A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Met33Val",
        "hgvsWellDefined": "XP_011532347.1:p.Met33Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.97A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Met33Val",
        "hgvsWellDefined": "XP_016862595.1:p.Met33Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425895",
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "A",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.202A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Met68Val",
        "hgvsWellDefined": "NP_003233.4:p.Met68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.202A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.202A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Met68Val"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Met68Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}