{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255597",
  "communityStandardTitle": [
    "NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25942[alleleid]",
        "alleleId": 25942,
        "preferredName": "NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10903",
        "RCV": [
          "RCV000011650"
        ],
        "variationId": 10903
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.123505239T>A?assembly=hg19",
        "id": "chrX:g.123505239T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.124371389T>A?assembly=hg38",
        "id": "chrX:g.124371389T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033625",
        "rs": 111033625
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 124371389,
          "referenceAllele": "T",
          "start": 124371388
        }
      ],
      "hgvs": [
        "NC_000023.11:g.124371389T>A",
        "CM000685.2:g.124371389T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 123505239,
          "referenceAllele": "T",
          "start": 123505238
        }
      ],
      "hgvs": [
        "NC_000023.10:g.123505239T>A",
        "CM000685.1:g.123505239T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 123332920,
          "referenceAllele": "T",
          "start": 123332919
        }
      ],
      "hgvs": [
        "NC_000023.9:g.123332920T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30090,
          "referenceAllele": "T",
          "start": 30089
        }
      ],
      "hgvs": [
        "NG_007464.1:g.30090T>A",
        "LRG_106:g.30090T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415830,
          "referenceAllele": "T",
          "start": 415829
        }
      ],
      "hgvs": [
        "NG_033796.2:g.415830T>A",
        "LRG_782:g.415830T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005517"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "T",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000360027.5:c.376T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353126.4:p.Ter126Arg",
        "hgvsWellDefined": "ENSP00000353126.4:p.Pro125_Ter126insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "T",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000647259.2:c.*223T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494582.1:n.*223T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "T",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698112.1:n.691T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2073,
          "referenceAllele": "T",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698113.1:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513571.1:p.Ter129Arg",
        "hgvsWellDefined": "ENSP00000513571.1:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "T",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698114.1:n.245T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "T",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698115.1:n.320T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "T",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698116.1:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513572.1:p.Ter129Arg",
        "hgvsWellDefined": "ENSP00000513572.1:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "referenceAllele": "T",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698117.1:c.*99T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513573.1:n.*99T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 420,
          "referenceAllele": "T",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698118.1:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513574.1:p.Ter129Arg",
        "hgvsWellDefined": "ENSP00000513574.1:p.Pro128_Ter129insArgArgLysIleLysHisLeuLeuPheLeuLeuHisGlyArgProHisPheGluGlyLysPheGlnGlnLeuGlnLeuMetSerAsn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "T",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698119.1:n.684T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "referenceAllele": "T",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000698120.1:n.222T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "T",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000371139.9:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360181.5:p.Ter129Arg",
        "hgvsWellDefined": "ENSP00000360181.5:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371139.9:c.385T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002351.5:c.385T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360181.5:p.Ter129Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002342.1:p.Ter129Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "T",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000647259.1:c.*223T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494582.1:n.*223T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000360027.4:c.376T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353126.4:p.Ter126Arg",
        "hgvsWellDefined": "ENSP00000353126.4:p.Pro125_Ter126insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "T",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000371139.8:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360181.4:p.Ter129Arg",
        "hgvsWellDefined": "ENSP00000360181.4:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "endIntronDirection": "-",
          "endIntronOffset": 40432,
          "referenceAllele": "T",
          "start": 453,
          "startIntronDirection": "-",
          "startIntronOffset": 40433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011355",
      "geneNCBI_id": 10735,
      "geneSymbol": "STAG2",
      "hgvs": [
        "ENST00000469481.1:n.454-40433T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000477673.2:c.*77T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477094.1:n.*77T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "T",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000491950.5:n.375T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "T",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000494073.5:n.320T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "T",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "ENST00000635645.1:n.746T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579466",
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_001114937.2:c.376T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108409.1:p.Ter126Arg",
        "hgvsWellDefined": "NP_001108409.1:p.Pro125_Ter126insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829346369",
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "T",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_002351.4:c.385T>A",
        "LRG_106t1:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002342.1:p.Ter129Arg",
        "hgvsWellDefined": "NP_002342.1:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829346369",
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "T",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_002351.5:c.385T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002342.1:p.Ter129Arg",
        "hgvsWellDefined": "NP_002342.1:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695518",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371139.9:c.385T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002351.5:c.385T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360181.5:p.Ter129Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002342.1:p.Ter129Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579466",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "T",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NM_001114937.3:c.376T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108409.1:p.Ter126Arg",
        "hgvsWellDefined": "NP_001108409.1:p.Pro125_Ter126insArgArgLysIleLysHisLeuValLeuTyrPheLeu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712134"
    }
  ],
  "type": "nucleotide"
}