{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342374",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.1982T>C (p.Leu661Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34543[alleleid]",
        "alleleId": 34543,
        "preferredName": "NM_024577.4(SH3TC2):c.1982T>C (p.Leu661Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21691",
        "RCV": [
          "RCV000790207"
        ],
        "variationId": 21691
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148407313A>G?assembly=hg19",
        "id": "chr5:g.148407313A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149027750A>G?assembly=hg38",
        "id": "chr5:g.149027750A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338927",
        "rs": 80338927
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149027750,
          "referenceAllele": "A",
          "start": 149027749
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149027750A>G",
        "CM000667.2:g.149027750A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 148407313,
          "referenceAllele": "A",
          "start": 148407312
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148407313A>G",
        "CM000667.1:g.148407313A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 148387506,
          "referenceAllele": "A",
          "start": 148387505
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148387506A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40425,
          "referenceAllele": "T",
          "start": 40424
        }
      ],
      "hgvs": [
        "NG_007947.2:g.40425T>C",
        "LRG_269:g.40425T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "T",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.1878T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2022,
          "referenceAllele": "T",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Leu661Pro",
        "hgvsWellDefined": "ENSP00000423660.1:p.Leu661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1982T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1982T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Leu661Pro"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Leu661Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2362,
          "referenceAllele": "T",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*1266T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*1266T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "referenceAllele": "T",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*1492T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*1492T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "referenceAllele": "T",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*1370T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*1370T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.1512T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.1512T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2123,
          "referenceAllele": "T",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:p.Leu661Pro",
        "hgvsWellDefined": "ENSP00000425627.1:p.Leu661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1032,
          "referenceAllele": "T",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.1032T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2090,
          "referenceAllele": "T",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*1762T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*1762T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "T",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.1961T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:p.Leu654Pro",
        "hgvsWellDefined": "ENSP00000421860.1:p.Leu654Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2079,
          "referenceAllele": "T",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*1370T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*1370T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2084,
          "referenceAllele": "T",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Leu661Pro",
        "hgvsWellDefined": "ENSP00000423660.1:p.Leu661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342376",
      "coordinates": [
        {
          "allele": "C",
          "end": 2134,
          "referenceAllele": "T",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.1982T>C",
        "LRG_269t1:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Leu661Pro",
        "hgvsWellDefined": "NP_078853.2:p.Leu661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342376",
      "coordinates": [
        {
          "allele": "C",
          "end": 2022,
          "referenceAllele": "T",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.1982T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Leu661Pro",
        "hgvsWellDefined": "NP_078853.2:p.Leu661Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1982T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1982T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Leu661Pro"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Leu661Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}