{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA322326",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209612[alleleid]",
        "alleleId": 209612,
        "preferredName": "NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213920",
        "RCV": [
          "RCV000197867",
          "RCV001183813",
          "RCV003996928"
        ],
        "variationId": 213920
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30713741C>G?assembly=hg19",
        "id": "chr3:g.30713741C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30672249C>G?assembly=hg38",
        "id": "chr3:g.30672249C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199660234",
        "rs": 199660234
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30713741-C-G?dataset=gnomad_r2_1",
        "id": "3-30713741-C-G",
        "variant": "3:30713741 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30672249-C-G?dataset=gnomad_r3",
        "id": "3-30672249-C-G",
        "variant": "3:30672249 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30672249-C-G?dataset=gnomad_r4",
        "id": "3-30672249-C-G",
        "variant": "3:30672249 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30672249,
          "referenceAllele": "C",
          "start": 30672248
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30672249C>G",
        "CM000665.2:g.30672249C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30713741,
          "referenceAllele": "C",
          "start": 30713740
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30713741C>G",
        "CM000665.1:g.30713741C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30688745,
          "referenceAllele": "C",
          "start": 30688744
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30688745C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70748,
          "referenceAllele": "C",
          "start": 70747
        }
      ],
      "hgvs": [
        "NG_007490.1:g.70748C>G",
        "LRG_779:g.70748C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg356Gly",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg356Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1066C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1066C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg356Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg356Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2662,
          "referenceAllele": "C",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2662C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg356Gly",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg356Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1141C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Arg381Gly",
        "hgvsWellDefined": "ENSP00000351905.4:p.Arg381Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA322329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1141C>G",
        "LRG_779t1:c.1141C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Arg381Gly",
        "hgvsWellDefined": "NP_001020018.1:p.Arg381Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA322328",
      "coordinates": [
        {
          "allele": "G",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg356Gly",
        "hgvsWellDefined": "NP_003233.4:p.Arg356Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1093C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg365Gly",
        "hgvsWellDefined": "XP_011532345.1:p.Arg365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Arg340Gly",
        "hgvsWellDefined": "XP_011532346.1:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.961C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg321Gly",
        "hgvsWellDefined": "XP_011532347.1:p.Arg321Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1093C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg365Gly",
        "hgvsWellDefined": "XP_011532345.1:p.Arg365Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.961C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg321Gly",
        "hgvsWellDefined": "XP_011532347.1:p.Arg321Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2662,
          "referenceAllele": "C",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.961C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Arg321Gly",
        "hgvsWellDefined": "XP_016862595.1:p.Arg321Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA322328",
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg356Gly",
        "hgvsWellDefined": "NP_003233.4:p.Arg356Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1066C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1066C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg356Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg356Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}