{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2027015",
  "communityStandardTitle": [
    "NM_005259.3(MSTN):c.1062T>C (p.Asn354=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=283669[alleleid]",
        "alleleId": 283669,
        "preferredName": "NM_005259.3(MSTN):c.1062T>C (p.Asn354=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/333234",
        "RCV": [
          "RCV000317681"
        ],
        "variationId": 333234
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-190922050-A-G",
        "id": "2-190922050-A-G",
        "variant": "2:190922050 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.190922050A>G?assembly=hg19",
        "id": "chr2:g.190922050A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.190057324A>G?assembly=hg38",
        "id": "chr2:g.190057324A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761053215",
        "rs": 761053215
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-190922050-A-G?dataset=gnomad_r2_1",
        "id": "2-190922050-A-G",
        "variant": "2:190922050 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-190057324-A-G?dataset=gnomad_r3",
        "id": "2-190057324-A-G",
        "variant": "2:190057324 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-190057324-A-G?dataset=gnomad_r4",
        "id": "2-190057324-A-G",
        "variant": "2:190057324 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 190057324,
          "referenceAllele": "A",
          "start": 190057323
        }
      ],
      "hgvs": [
        "NC_000002.12:g.190057324A>G",
        "CM000664.2:g.190057324A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 190922050,
          "referenceAllele": "A",
          "start": 190922049
        }
      ],
      "hgvs": [
        "NC_000002.11:g.190922050A>G",
        "CM000664.1:g.190922050A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 190630295,
          "referenceAllele": "A",
          "start": 190630294
        }
      ],
      "hgvs": [
        "NC_000002.10:g.190630295A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10406,
          "referenceAllele": "T",
          "start": 10405
        }
      ],
      "hgvs": [
        "NG_009800.1:g.10406T>C",
        "LRG_200:g.10406T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001648"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004223",
      "geneNCBI_id": 2660,
      "geneSymbol": "MSTN",
      "hgvs": [
        "ENST00000260950.5:c.1062T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260950.3:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742072",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260950.5:c.1062T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005259.3:c.1062T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260950.3:p.Asn354="
          },
          "RefSeq": {
            "hgvs": "NP_005250.1:p.Asn354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004223",
      "geneNCBI_id": 2660,
      "geneSymbol": "MSTN",
      "hgvs": [
        "ENST00000260950.4:c.1062T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260950.3:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 21898,
          "referenceAllele": "A",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 21899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028191",
      "geneNCBI_id": 84281,
      "geneSymbol": "C2orf88",
      "hgvs": [
        "ENST00000478197.1:n.220-21899A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 22629,
          "referenceAllele": "A",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 22630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028191",
      "geneNCBI_id": 84281,
      "geneSymbol": "C2orf88",
      "hgvs": [
        "ENST00000495546.1:n.202-22630A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829594954",
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004223",
      "geneNCBI_id": 2660,
      "geneSymbol": "MSTN",
      "hgvs": [
        "NM_005259.2:c.1062T>C",
        "LRG_200t1:c.1062T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005250.1:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "endIntronDirection": "-",
          "endIntronOffset": 22629,
          "referenceAllele": "A",
          "start": 201,
          "startIntronDirection": "-",
          "startIntronOffset": 22630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028191",
      "geneNCBI_id": 84281,
      "geneSymbol": "C2orf88",
      "hgvs": [
        "XM_005246905.1:c.-359-22630A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246962.1:n.-359-22630A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "T",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004223",
      "geneNCBI_id": 2660,
      "geneSymbol": "MSTN",
      "hgvs": [
        "XM_011510958.1:c.678T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509260.1:p.Asn226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 22629,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 22630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028191",
      "geneNCBI_id": 84281,
      "geneSymbol": "C2orf88",
      "hgvs": [
        "XM_011511982.1:c.-433-22630A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510284.1:n.-433-22630A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 22629,
          "referenceAllele": "A",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 22630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028191",
      "geneNCBI_id": 84281,
      "geneSymbol": "C2orf88",
      "hgvs": [
        "XM_011511986.1:c.-234-22630A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510288.1:n.-234-22630A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 22629,
          "referenceAllele": "A",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 22630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028191",
      "geneNCBI_id": 84281,
      "geneSymbol": "C2orf88",
      "hgvs": [
        "XM_011511986.2:c.-234-22630A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510288.1:n.-234-22630A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829594954",
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004223",
      "geneNCBI_id": 2660,
      "geneSymbol": "MSTN",
      "hgvs": [
        "NM_005259.3:c.1062T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005250.1:p.Asn354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260950.5:c.1062T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005259.3:c.1062T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260950.3:p.Asn354="
          },
          "RefSeq": {
            "hgvs": "NP_005250.1:p.Asn354="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}