{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8956059",
  "communityStandardTitle": [
    "NM_005901.6(SMAD2):c.1176T>C (p.Ala392=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1546414[alleleid]",
        "alleleId": 1546414,
        "preferredName": "NM_005901.6(SMAD2):c.1176T>C (p.Ala392=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1600987",
        "RCV": [
          "RCV002124809",
          "RCV002331754"
        ],
        "variationId": 1600987
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-45371815-A-G",
        "id": "18-45371815-A-G",
        "variant": "18:45371815 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45371815A>G?assembly=hg19",
        "id": "chr18:g.45371815A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.47845444A>G?assembly=hg38",
        "id": "chr18:g.47845444A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146123397",
        "rs": 146123397
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-45371815-A-G?dataset=gnomad_r2_1",
        "id": "18-45371815-A-G",
        "variant": "18:45371815 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-47845444-A-G?dataset=gnomad_r3",
        "id": "18-47845444-A-G",
        "variant": "18:47845444 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-47845444-A-G?dataset=gnomad_r4",
        "id": "18-47845444-A-G",
        "variant": "18:47845444 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 47845444,
          "referenceAllele": "A",
          "start": 47845443
        }
      ],
      "hgvs": [
        "NC_000018.10:g.47845444A>G",
        "CM000680.2:g.47845444A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 45371815,
          "referenceAllele": "A",
          "start": 45371814
        }
      ],
      "hgvs": [
        "NC_000018.9:g.45371815A>G",
        "CM000680.1:g.45371815A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 43625813,
          "referenceAllele": "A",
          "start": 43625812
        }
      ],
      "hgvs": [
        "NC_000018.8:g.43625813A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 90701,
          "referenceAllele": "T",
          "start": 90700
        }
      ],
      "hgvs": [
        "NG_029946.1:g.90701T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004801"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "T",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "ENST00000262160.11:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262160.6:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262160.11:c.1176T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005901.6:c.1176T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262160.6:p.Ala392="
          },
          "RefSeq": {
            "hgvs": "NP_005892.1:p.Ala392="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "referenceAllele": "T",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "ENST00000262160.10:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262160.6:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "ENST00000356825.8:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349282.4:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1571,
          "referenceAllele": "T",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "ENST00000402690.6:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384449.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "ENST00000586040.5:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466193.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "T",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "ENST00000591214.5:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467075.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825254849",
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "referenceAllele": "T",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_001003652.3:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003652.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825804286",
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_001135937.2:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129409.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829623737",
      "coordinates": [
        {
          "allele": "C",
          "end": 1468,
          "referenceAllele": "T",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_005901.5:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005892.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1709,
          "referenceAllele": "T",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_005258259.2:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258316.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1721,
          "referenceAllele": "T",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_006722451.2:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722514.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_011525983.1:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524285.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "T",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_011525984.1:c.1050T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524286.1:p.Ala350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1768,
          "referenceAllele": "T",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_011525985.1:c.1017T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524287.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "T",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_011525986.1:c.456T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524288.1:p.Ala152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "T",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_005258259.4:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258316.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_006722451.4:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722514.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "T",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_011525984.2:c.1050T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524286.1:p.Ala350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_011525985.3:c.1017T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524287.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1802,
          "referenceAllele": "T",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_017025745.2:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881234.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1614,
          "referenceAllele": "T",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_017025746.2:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881235.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "T",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_017025747.2:c.1029T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881236.1:p.Ala343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "T",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_017025748.2:c.1017T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881237.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1348,
          "referenceAllele": "T",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_017025750.2:c.456T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881239.1:p.Ala152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1561,
          "referenceAllele": "T",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "XM_024451173.1:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306941.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825254849",
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_001003652.4:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003652.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829623737",
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "T",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_005901.6:c.1176T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005892.1:p.Ala392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696555",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262160.11:c.1176T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005901.6:c.1176T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262160.6:p.Ala392="
          },
          "RefSeq": {
            "hgvs": "NP_005892.1:p.Ala392="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825804286",
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "T",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NM_001135937.3:c.1086T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129409.1:p.Ala362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712469"
    }
  ],
  "type": "nucleotide"
}