{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320296",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209598[alleleid]",
        "alleleId": 209598,
        "preferredName": "NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213915",
        "RCV": [
          "RCV000195915",
          "RCV000471319",
          "RCV000509415",
          "RCV002478686",
          "RCV003996927",
          "RCV004020380"
        ],
        "variationId": 213915
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30691910T>G?assembly=hg19",
        "id": "chr3:g.30691910T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30650418T>G?assembly=hg38",
        "id": "chr3:g.30650418T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223838",
        "rs": 863223838
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30691910-T-G?dataset=gnomad_r2_1",
        "id": "3-30691910-T-G",
        "variant": "3:30691910 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30650418-T-G?dataset=gnomad_r3",
        "id": "3-30650418-T-G",
        "variant": "3:30650418 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30650418-T-G?dataset=gnomad_r4",
        "id": "3-30650418-T-G",
        "variant": "3:30650418 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30650418,
          "referenceAllele": "T",
          "start": 30650417
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30650418T>G",
        "CM000665.2:g.30650418T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30691910,
          "referenceAllele": "T",
          "start": 30691909
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30691910T>G",
        "CM000665.1:g.30691910T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 30666914,
          "referenceAllele": "T",
          "start": 30666913
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30666914T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48917,
          "referenceAllele": "T",
          "start": 48916
        }
      ],
      "hgvs": [
        "NG_007490.1:g.48917T>G",
        "LRG_779:g.48917T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "T",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.412T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Cys138Gly",
        "hgvsWellDefined": "ENSP00000295754.5:p.Cys138Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.412T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.412T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Cys138Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Cys138Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2008T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "referenceAllele": "T",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673250.1:n.536T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.412T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Cys138Gly",
        "hgvsWellDefined": "ENSP00000295754.5:p.Cys138Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "T",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.487T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Cys163Gly",
        "hgvsWellDefined": "ENSP00000351905.4:p.Cys163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320299",
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "referenceAllele": "T",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.487T>G",
        "LRG_779t1:c.487T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Cys163Gly",
        "hgvsWellDefined": "NP_001020018.1:p.Cys163Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320298",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.412T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Cys138Gly",
        "hgvsWellDefined": "NP_003233.4:p.Cys138Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.439T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Cys147Gly",
        "hgvsWellDefined": "XP_011532345.1:p.Cys147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "referenceAllele": "T",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.364T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Cys122Gly",
        "hgvsWellDefined": "XP_011532346.1:p.Cys122Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "T",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.307T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Cys103Gly",
        "hgvsWellDefined": "XP_011532347.1:p.Cys103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "T",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.439T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Cys147Gly",
        "hgvsWellDefined": "XP_011532345.1:p.Cys147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "T",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.307T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Cys103Gly",
        "hgvsWellDefined": "XP_011532347.1:p.Cys103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.307T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Cys103Gly",
        "hgvsWellDefined": "XP_016862595.1:p.Cys103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320298",
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "T",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.412T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Cys138Gly",
        "hgvsWellDefined": "NP_003233.4:p.Cys138Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.412T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.412T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Cys138Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Cys138Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}