{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339774",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34541[alleleid]",
        "alleleId": 34541,
        "preferredName": "NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21689",
        "RCV": [
          "RCV000020887",
          "RCV000206757",
          "RCV000857147",
          "RCV002496432"
        ],
        "variationId": 21689
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-148407326-C-T",
        "id": "5-148407326-C-T",
        "variant": "5:148407326 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148407326C>T?assembly=hg19",
        "id": "chr5:g.148407326C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149027763C>T?assembly=hg38",
        "id": "chr5:g.149027763C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338925",
        "rs": 80338925
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148407326-C-T?dataset=gnomad_r2_1",
        "id": "5-148407326-C-T",
        "variant": "5:148407326 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149027763-C-T?dataset=gnomad_r4",
        "id": "5-149027763-C-T",
        "variant": "5:149027763 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149027763,
          "referenceAllele": "C",
          "start": 149027762
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149027763C>T",
        "CM000667.2:g.149027763C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148407326,
          "referenceAllele": "C",
          "start": 148407325
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148407326C>T",
        "CM000667.1:g.148407326C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148387519,
          "referenceAllele": "C",
          "start": 148387518
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148387519C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40412,
          "referenceAllele": "G",
          "start": 40411
        }
      ],
      "hgvs": [
        "NG_007947.2:g.40412G>A",
        "LRG_269:g.40412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1865,
          "referenceAllele": "G",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.1865G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Glu657Lys",
        "hgvsWellDefined": "ENSP00000423660.1:p.Glu657Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1969G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1969G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Glu657Lys"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Glu657Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2349,
          "referenceAllele": "G",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*1253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*1253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*1479G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*1479G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*1357G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*1357G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1499,
          "referenceAllele": "G",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.1499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.1499G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:p.Glu657Lys",
        "hgvsWellDefined": "ENSP00000425627.1:p.Glu657Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.1019G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2077,
          "referenceAllele": "G",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*1749G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*1749G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.1948G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:p.Glu650Lys",
        "hgvsWellDefined": "ENSP00000421860.1:p.Glu650Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*1357G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*1357G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Glu657Lys",
        "hgvsWellDefined": "ENSP00000423660.1:p.Glu657Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113695",
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.1969G>A",
        "LRG_269t1:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Glu657Lys",
        "hgvsWellDefined": "NP_078853.2:p.Glu657Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113695",
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Glu657Lys",
        "hgvsWellDefined": "NP_078853.2:p.Glu657Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.1969G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.1969G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Glu657Lys"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Glu657Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}