{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351808961",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1680017[alleleid]",
        "alleleId": 1680017,
        "preferredName": "NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687722",
        "RCV": [
          "RCV002251696"
        ],
        "variationId": 1687722
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30715643T>A?assembly=hg19",
        "id": "chr3:g.30715643T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30674151T>A?assembly=hg38",
        "id": "chr3:g.30674151T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575158954",
        "rs": 1575158954
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-30674151-T-A?dataset=gnomad_r4",
        "id": "3-30674151-T-A",
        "variant": "3:30674151 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30674151,
          "referenceAllele": "T",
          "start": 30674150
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30674151T>A",
        "CM000665.2:g.30674151T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30715643,
          "referenceAllele": "T",
          "start": 30715642
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30715643T>A",
        "CM000665.1:g.30715643T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30690647,
          "referenceAllele": "T",
          "start": 30690646
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30690647T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72650,
          "referenceAllele": "T",
          "start": 72649
        }
      ],
      "hgvs": [
        "NG_007490.1:g.72650T>A",
        "LRG_779:g.72650T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "T",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1301T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Met434Lys",
        "hgvsWellDefined": "ENSP00000295754.5:p.Met434Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1301T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1301T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Met434Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Met434Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "T",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2897T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673203.1:n.179T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1301T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Met434Lys",
        "hgvsWellDefined": "ENSP00000295754.5:p.Met434Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "T",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1376T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Met459Lys",
        "hgvsWellDefined": "ENSP00000351905.4:p.Met459Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573177077",
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "T",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1376T>A",
        "LRG_779t1:c.1376T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Met459Lys",
        "hgvsWellDefined": "NP_001020018.1:p.Met459Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426361",
      "coordinates": [
        {
          "allele": "A",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1301T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Met434Lys",
        "hgvsWellDefined": "NP_003233.4:p.Met434Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1328T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Met443Lys",
        "hgvsWellDefined": "XP_011532345.1:p.Met443Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "T",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1253T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Met418Lys",
        "hgvsWellDefined": "XP_011532346.1:p.Met418Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1196T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Met399Lys",
        "hgvsWellDefined": "XP_011532347.1:p.Met399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1531,
          "referenceAllele": "T",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1328T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Met443Lys",
        "hgvsWellDefined": "XP_011532345.1:p.Met443Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1329,
          "referenceAllele": "T",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1196T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Met399Lys",
        "hgvsWellDefined": "XP_011532347.1:p.Met399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "T",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1196T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Met399Lys",
        "hgvsWellDefined": "XP_016862595.1:p.Met399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426361",
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "T",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1301T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Met434Lys",
        "hgvsWellDefined": "NP_003233.4:p.Met434Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1301T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1301T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Met434Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Met434Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}