{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124538",
  "communityStandardTitle": [
    "NM_000184.3(HBG2):c.103G>A (p.Val35Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30018[alleleid]",
        "alleleId": 30018,
        "preferredName": "NM_000184.2(HBG2):c.103G>A (p.Val35Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14979",
        "RCV": [
          "RCV000016119"
        ],
        "variationId": 14979
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5275734C>T?assembly=hg19",
        "id": "chr11:g.5275734C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5254504C>T?assembly=hg38",
        "id": "chr11:g.5254504C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35885783",
        "rs": 35885783
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5254504-C-T?dataset=gnomad_r3",
        "id": "11-5254504-C-T",
        "variant": "11:5254504 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5254504-C-T?dataset=gnomad_r4",
        "id": "11-5254504-C-T",
        "variant": "11:5254504 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5254504,
          "referenceAllele": "C",
          "start": 5254503
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5254504C>T",
        "CM000673.2:g.5254504C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5275734,
          "referenceAllele": "C",
          "start": 5275733
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5275734C>T",
        "CM000673.1:g.5275734C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5232310,
          "referenceAllele": "C",
          "start": 5232309
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5232310C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43112,
          "referenceAllele": "G",
          "start": 43111
        }
      ],
      "hgvs": [
        "NG_000007.3:g.43112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.6:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.Val35Ile",
        "hgvsWellDefined": "ENSP00000338082.4:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747620",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.103G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.103G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.Val35Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.Val35Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.6:c.-63G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.2:n.-63G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "hgvs": [
        "ENST00000380259.7:c.1649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.3:n.1649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "hgvs": [
        "ENST00000642908.1:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495346.1:p.Val35Ile",
        "hgvsWellDefined": "ENSP00000495346.1:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "hgvs": [
        "ENST00000647543.1:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496470.1:p.Val35Ile",
        "hgvsWellDefined": "ENSP00000496470.1:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "referenceAllele": "G",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000336906.4:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338082.4:p.Val35Ile",
        "hgvsWellDefined": "ENSP00000338082.4:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.5:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.1:p.Val25Ile",
        "hgvsWellDefined": "ENSP00000369602.1:p.Val25Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1344,
          "referenceAllele": "G",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380259.6:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.2:p.Val35Ile",
        "hgvsWellDefined": "ENSP00000369609.2:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000444587.1:c.65G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488218.1:p.Cys22Tyr",
        "hgvsWellDefined": "ENSP00000488218.1:p.Cys22Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000620888.4:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479637.1:p.Val35Ile",
        "hgvsWellDefined": "ENSP00000479637.1:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "hgvs": [
        "ENST00000624109.1:c.252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485458.1:p.Asp84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124539",
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.2:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.Val35Ile",
        "hgvsWellDefined": "NP_000175.1:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124539",
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NM_000184.3:c.103G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000175.1:p.Val35Ile",
        "hgvsWellDefined": "NP_000175.1:p.Val35Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336906.6:c.103G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000184.3:c.103G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338082.4:p.Val35Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000175.1:p.Val35Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}