{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361667348",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.1972C>A (p.Arg658Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148407323G>T?assembly=hg19",
        "id": "chr5:g.148407323G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149027760G>T?assembly=hg38",
        "id": "chr5:g.149027760G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338926",
        "rs": 80338926
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148407323-G-T?dataset=gnomad_r2_1",
        "id": "5-148407323-G-T",
        "variant": "5:148407323 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149027760-G-T?dataset=gnomad_r4",
        "id": "5-149027760-G-T",
        "variant": "5:149027760 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149027760,
          "referenceAllele": "G",
          "start": 149027759
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149027760G>T",
        "CM000667.2:g.149027760G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148407323,
          "referenceAllele": "G",
          "start": 148407322
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148407323G>T",
        "CM000667.1:g.148407323G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148387516,
          "referenceAllele": "G",
          "start": 148387515
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148387516G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40415,
          "referenceAllele": "C",
          "start": 40414
        }
      ],
      "hgvs": [
        "NG_007947.2:g.40415C>A",
        "LRG_269:g.40415C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1868,
          "referenceAllele": "C",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.1868C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.1972C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Arg658Ser",
        "hgvsWellDefined": "ENSP00000423660.1:p.Arg658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1972C>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1972C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Arg658Ser"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Arg658Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2352,
          "referenceAllele": "C",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*1256C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*1256C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2216,
          "referenceAllele": "C",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*1482C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*1482C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*1360C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*1360C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.1502C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.1502C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.1972C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:p.Arg658Ser",
        "hgvsWellDefined": "ENSP00000425627.1:p.Arg658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1022,
          "referenceAllele": "C",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.1022C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*1752C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*1752C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2018,
          "referenceAllele": "C",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.1951C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:p.Arg651Ser",
        "hgvsWellDefined": "ENSP00000421860.1:p.Arg651Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "referenceAllele": "C",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*1360C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*1360C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.1972C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Arg658Ser",
        "hgvsWellDefined": "ENSP00000423660.1:p.Arg658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070944176",
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.1972C>A",
        "LRG_269t1:c.1972C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Arg658Ser",
        "hgvsWellDefined": "NP_078853.2:p.Arg658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070944176",
      "coordinates": [
        {
          "allele": "A",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.1972C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Arg658Ser",
        "hgvsWellDefined": "NP_078853.2:p.Arg658Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1972C>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1972C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Arg658Ser"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Arg658Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}