{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10345244",
  "communityStandardTitle": [
    "NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1163104[alleleid]",
        "alleleId": 1163104,
        "preferredName": "NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1174005",
        "RCV": [
          "RCV001797192"
        ],
        "variationId": 1174005
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-9862579-G-A",
        "id": "X-9862579-G-A",
        "variant": "X:9862579 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.9862579G>A?assembly=hg19",
        "id": "chrX:g.9862579G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.9894539G>A?assembly=hg38",
        "id": "chrX:g.9894539G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138558321",
        "rs": 138558321
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-9862579-G-A?dataset=gnomad_r2_1",
        "id": "X-9862579-G-A",
        "variant": "X:9862579 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-9894539-G-A?dataset=gnomad_r3",
        "id": "X-9894539-G-A",
        "variant": "X:9894539 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-9894539-G-A?dataset=gnomad_r4",
        "id": "X-9894539-G-A",
        "variant": "X:9894539 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 9894539,
          "referenceAllele": "G",
          "start": 9894538
        }
      ],
      "hgvs": [
        "NC_000023.11:g.9894539G>A",
        "CM000685.2:g.9894539G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 9862579,
          "referenceAllele": "G",
          "start": 9862578
        }
      ],
      "hgvs": [
        "NC_000023.10:g.9862579G>A",
        "CM000685.1:g.9862579G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 9822579,
          "referenceAllele": "G",
          "start": 9822578
        }
      ],
      "hgvs": [
        "NC_000023.9:g.9822579G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113084,
          "referenceAllele": "G",
          "start": 113083
        }
      ],
      "hgvs": [
        "NG_012493.1:g.113084G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113084,
          "referenceAllele": "G",
          "start": 113083
        }
      ],
      "hgvs": [
        "NG_012493.2:g.113084G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "ENST00000380913.8:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370299.3:p.Gly211Ser",
        "hgvsWellDefined": "ENSP00000370299.3:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380913.8:c.631G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001649.4:c.631G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370299.3:p.Gly211Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001640.1:p.Gly211Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "ENST00000380913.7:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370299.3:p.Gly211Ser",
        "hgvsWellDefined": "ENSP00000370299.3:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080805",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "NM_001649.2:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001640.1:p.Gly211Ser",
        "hgvsWellDefined": "NP_001640.1:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "XM_005274500.3:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274557.2:p.Gly211Ser",
        "hgvsWellDefined": "XP_005274557.2:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080805",
      "coordinates": [
        {
          "allele": "A",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "NM_001649.3:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001640.1:p.Gly211Ser",
        "hgvsWellDefined": "NP_001640.1:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "XM_005274500.4:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274557.2:p.Gly211Ser",
        "hgvsWellDefined": "XP_005274557.2:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080805",
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000630",
      "geneNCBI_id": 357,
      "geneSymbol": "SHROOM2",
      "hgvs": [
        "NM_001649.4:c.631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001640.1:p.Gly211Ser",
        "hgvsWellDefined": "NP_001640.1:p.Gly211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380913.8:c.631G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001649.4:c.631G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370299.3:p.Gly211Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001640.1:p.Gly211Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}