{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA239663",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1265511",
        "active": true,
        "id": "COSM1265511"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1265512",
        "active": true,
        "id": "COSM1265512"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191093[alleleid]",
        "alleleId": 191093,
        "preferredName": "NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193930",
        "RCV": [
          "RCV000236423",
          "RCV000724178",
          "RCV001157383",
          "RCV001085590",
          "RCV001157384",
          "RCV001173837",
          "RCV002408756",
          "RCV004535197"
        ],
        "variationId": 193930
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-148407433-C-T",
        "id": "5-148407433-C-T",
        "variant": "5:148407433 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148407433C>T?assembly=hg19",
        "id": "chr5:g.148407433C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149027870C>T?assembly=hg38",
        "id": "chr5:g.149027870C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143032801",
        "rs": 143032801
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148407433-C-T?dataset=gnomad_r2_1",
        "id": "5-148407433-C-T",
        "variant": "5:148407433 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149027870-C-T?dataset=gnomad_r3",
        "id": "5-149027870-C-T",
        "variant": "5:149027870 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149027870-C-T?dataset=gnomad_r4",
        "id": "5-149027870-C-T",
        "variant": "5:149027870 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149027870,
          "referenceAllele": "C",
          "start": 149027869
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149027870C>T",
        "CM000667.2:g.149027870C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148407433,
          "referenceAllele": "C",
          "start": 148407432
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148407433C>T",
        "CM000667.1:g.148407433C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148387626,
          "referenceAllele": "C",
          "start": 148387625
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148387626C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40305,
          "referenceAllele": "G",
          "start": 40304
        }
      ],
      "hgvs": [
        "NG_007947.2:g.40305G>A",
        "LRG_269:g.40305G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "G",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.1758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.1862G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Arg621His",
        "hgvsWellDefined": "ENSP00000423660.1:p.Arg621His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1862G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1862G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Arg621His"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Arg621His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "G",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*1146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*1146G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2106,
          "referenceAllele": "G",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*1372G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*1372G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*1250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*1250G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.1392G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.1392G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "referenceAllele": "G",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.1862G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:p.Arg621His",
        "hgvsWellDefined": "ENSP00000425627.1:p.Arg621His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.912G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*1642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*1642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.1841G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:p.Arg614His",
        "hgvsWellDefined": "ENSP00000421860.1:p.Arg614His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "referenceAllele": "G",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*1250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*1250G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "referenceAllele": "G",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.1862G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Arg621His",
        "hgvsWellDefined": "ENSP00000423660.1:p.Arg621His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA239665",
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "G",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.1862G>A",
        "LRG_269t1:c.1862G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Arg621His",
        "hgvsWellDefined": "NP_078853.2:p.Arg621His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA239665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.1862G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Arg621His",
        "hgvsWellDefined": "NP_078853.2:p.Arg621His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1862G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1862G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Arg621His"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Arg621His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}