{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA432917322",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.168G>A (p.Val56=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3234281[alleleid]",
        "alleleId": 3234281,
        "preferredName": "NM_003242.6(TGFBR2):c.168G>A (p.Val56=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3073325",
        "RCV": [
          "RCV004015339"
        ],
        "variationId": 3073325
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30686312G>A?assembly=hg19",
        "id": "chr3:g.30686312G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2470510112",
        "rs": 2470510112
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30644820-G-A?dataset=gnomad_r4",
        "id": "3-30644820-G-A",
        "variant": "3:30644820 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30644820,
          "referenceAllele": "G",
          "start": 30644819
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30644820G>A",
        "CM000665.2:g.30644820G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30686312,
          "referenceAllele": "G",
          "start": 30686311
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30686312G>A",
        "CM000665.1:g.30686312G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30661316,
          "referenceAllele": "G",
          "start": 30661315
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30661316G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43319,
          "referenceAllele": "G",
          "start": 43318
        }
      ],
      "hgvs": [
        "NG_007490.1:g.43319G>A",
        "LRG_779:g.43319G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.168G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.168G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Val56="
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Val56="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.1764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673250.1:n.292G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.243G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Val81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336519",
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.243G>A",
        "LRG_779t1:c.243G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Val81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425884",
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "referenceAllele": "G",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Val65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.120G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Val40="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.63G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Val21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Val65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.63G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Val21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.63G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Val21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829425884",
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Val56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.168G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.168G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Val56="
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Val56="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}