{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414123730",
  "communityStandardTitle": [
    "NM_002351.5(SH2D1A):c.201+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1508894[alleleid]",
        "alleleId": 1508894,
        "preferredName": "NM_002351.5(SH2D1A):c.201+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1518501",
        "RCV": [
          "RCV002021792"
        ],
        "variationId": 1518501
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.123499676T>C?assembly=hg19",
        "id": "chrX:g.123499676T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.124365826T>C?assembly=hg38",
        "id": "chrX:g.124365826T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147531379",
        "rs": 2147531379
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-124365826-T-C?dataset=gnomad_r4",
        "id": "X-124365826-T-C",
        "variant": "X:124365826 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 124365826,
          "referenceAllele": "T",
          "start": 124365825
        }
      ],
      "hgvs": [
        "NC_000023.11:g.124365826T>C",
        "CM000685.2:g.124365826T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 123499676,
          "referenceAllele": "T",
          "start": 123499675
        }
      ],
      "hgvs": [
        "NC_000023.10:g.123499676T>C",
        "CM000685.1:g.123499676T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 123327357,
          "referenceAllele": "T",
          "start": 123327356
        }
      ],
      "hgvs": [
        "NC_000023.9:g.123327357T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24527,
          "referenceAllele": "T",
          "start": 24526
        }
      ],
      "hgvs": [
        "NG_007464.1:g.24527T>C",
        "LRG_106:g.24527T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410267,
          "referenceAllele": "T",
          "start": 410266
        }
      ],
      "hgvs": [
        "NG_033796.2:g.410267T>C",
        "LRG_782:g.410267T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 428,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000360027.5:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353126.4:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000647259.2:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494582.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698112.1:n.562+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1889,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1889,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698113.1:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513571.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 4404,
          "referenceAllele": "T",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 4405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698114.1:n.117-4405T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698115.1:n.136+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698116.1:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513572.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698117.1:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513573.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698118.1:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513574.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698119.1:n.500+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000371139.9:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360181.5:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371139.9:c.201+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002351.5:c.201+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360181.5:n.201+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002342.1:n.201+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 453,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000647259.1:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494582.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000360027.4:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353126.4:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000371139.8:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360181.4:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "endIntronDirection": "-",
          "endIntronOffset": 45995,
          "referenceAllele": "T",
          "start": 453,
          "startIntronDirection": "-",
          "startIntronOffset": 45996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011355",
      "geneNCBI_id": 10735,
      "geneSymbol": "STAG2",
      "hgvs": [
        "ENST00000469481.1:n.454-45996T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 233,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000477673.2:c.179+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477094.1:n.179+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 4349,
          "referenceAllele": "T",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000491950.5:n.192-4350T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 4404,
          "referenceAllele": "T",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 4405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000494073.5:n.192-4405T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000635645.1:n.562+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_001114937.2:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108409.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_002351.4:c.201+2T>C",
        "LRG_106t1:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002342.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_002351.5:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002342.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695518",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371139.9:c.201+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002351.5:c.201+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360181.5:n.201+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002342.1:n.201+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_001114937.3:c.201+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108409.1:n.201+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712134"
    }
  ],
  "type": "nucleotide"
}