{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019422",
  "communityStandardTitle": [
    "NM_000251.3(MSH2):c.1837A>C (p.Asn613His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50086[alleleid]",
        "alleleId": 50086,
        "preferredName": "NM_000251.3(MSH2):c.1837A>C (p.Asn613His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41647",
        "RCV": [
          "RCV000034555",
          "RCV000705544",
          "RCV000771463"
        ],
        "variationId": 41647
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-47702241-A-C",
        "id": "2-47702241-A-C",
        "variant": "2:47702241 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47702241A>C?assembly=hg19",
        "id": "chr2:g.47702241A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47475102A>C?assembly=hg38",
        "id": "chr2:g.47475102A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200147804",
        "rs": 200147804
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47702241-A-C?dataset=gnomad_r2_1",
        "id": "2-47702241-A-C",
        "variant": "2:47702241 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47475102-A-C?dataset=gnomad_r3",
        "id": "2-47475102-A-C",
        "variant": "2:47475102 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47475102-A-C?dataset=gnomad_r4",
        "id": "2-47475102-A-C",
        "variant": "2:47475102 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47475102,
          "referenceAllele": "A",
          "start": 47475101
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47475102A>C",
        "CM000664.2:g.47475102A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47702241,
          "referenceAllele": "A",
          "start": 47702240
        }
      ],
      "hgvs": [
        "NC_000002.11:g.47702241A>C",
        "CM000664.1:g.47702241A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47555745,
          "referenceAllele": "A",
          "start": 47555744
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47555745A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76979,
          "referenceAllele": "A",
          "start": 76978
        }
      ],
      "hgvs": [
        "NG_007110.2:g.76979A>C",
        "LRG_218:g.76979A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000486"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "referenceAllele": "A",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000644900.2:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495641.2:p.Asn613His",
        "hgvsWellDefined": "ENSP00000495641.2:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "referenceAllele": "A",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000233146.7:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233146.2:p.Asn613His",
        "hgvsWellDefined": "ENSP00000233146.2:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233146.7:c.1837A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000251.3:c.1837A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233146.2:p.Asn613His"
          },
          "RefSeq": {
            "hgvs": "NP_000242.1:p.Asn613His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000543555.6:c.1639A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442697.1:p.Asn547His",
        "hgvsWellDefined": "ENSP00000442697.1:p.Asn547His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000644092.1:c.*137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496351.1:n.*137A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1910,
          "referenceAllele": "A",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000645339.1:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496441.1:p.Asn613His",
        "hgvsWellDefined": "ENSP00000496441.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1910,
          "referenceAllele": "A",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000645506.1:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495455.1:p.Asn613His",
        "hgvsWellDefined": "ENSP00000495455.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1910,
          "referenceAllele": "A",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000646415.1:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495543.1:p.Asn613His",
        "hgvsWellDefined": "ENSP00000495543.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "A",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000233146.6:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233146.2:p.Asn613His",
        "hgvsWellDefined": "ENSP00000233146.2:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000406134.5:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384199.1:p.Asn613His",
        "hgvsWellDefined": "ENSP00000384199.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000543555.5:c.1639A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442697.1:p.Asn547His",
        "hgvsWellDefined": "ENSP00000442697.1:p.Asn547His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000610696.4:c.*233A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483159.1:n.*233A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000613514.4:c.*377A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484137.1:n.*377A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1876,
          "referenceAllele": "A",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000617333.3:c.*603A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482468.1:n.*603A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000617938.4:c.*809A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481158.1:n.*809A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1877,
          "referenceAllele": "A",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "ENST00000621359.2:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481416.1:p.Asn613His",
        "hgvsWellDefined": "ENSP00000481416.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA215680",
      "coordinates": [
        {
          "allele": "C",
          "end": 1962,
          "referenceAllele": "A",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NM_000251.2:c.1837A>C",
        "LRG_218t1:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000242.1:p.Asn613His",
        "hgvsWellDefined": "NP_000242.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826464778",
      "coordinates": [
        {
          "allele": "C",
          "end": 1778,
          "referenceAllele": "A",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NM_001258281.1:c.1639A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245210.1:p.Asn547His",
        "hgvsWellDefined": "NP_001245210.1:p.Asn547His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "A",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XM_005264332.2:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264389.2:p.Asn613His",
        "hgvsWellDefined": "XP_005264389.2:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "A",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XM_011532867.1:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531169.1:p.Asn613His",
        "hgvsWellDefined": "XP_011531169.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "A",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XR_939685.1:n.1909A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XM_005264332.4:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264389.2:p.Asn613His",
        "hgvsWellDefined": "XP_005264389.2:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XM_011532867.2:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531169.1:p.Asn613His",
        "hgvsWellDefined": "XP_011531169.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XR_001738747.2:n.1899A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "A",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "XR_939685.2:n.1899A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA215680",
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "referenceAllele": "A",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NM_000251.3:c.1837A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000242.1:p.Asn613His",
        "hgvsWellDefined": "NP_000242.1:p.Asn613His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674763",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233146.7:c.1837A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000251.3:c.1837A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233146.2:p.Asn613His"
          },
          "RefSeq": {
            "hgvs": "NP_000242.1:p.Asn613His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}