{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123601",
  "communityStandardTitle": [
    "NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=686",
        "active": true,
        "id": "COSM686"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28919[alleleid]",
        "alleleId": 28919,
        "preferredName": "NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13880",
        "RCV": [
          "RCV000014894",
          "RCV000427276"
        ],
        "variationId": 13880
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.37881378A>G?assembly=hg19",
        "id": "chr17:g.37881378A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.39725125A>G?assembly=hg38",
        "id": "chr17:g.39725125A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933370",
        "rs": 28933370
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39725125-A-G?dataset=gnomad_r3",
        "id": "17-39725125-A-G",
        "variant": "17:39725125 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-39725125-A-G?dataset=gnomad_r4",
        "id": "17-39725125-A-G",
        "variant": "17:39725125 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39725125,
          "referenceAllele": "A",
          "start": 39725124
        }
      ],
      "hgvs": [
        "NC_000017.11:g.39725125A>G",
        "CM000679.2:g.39725125A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37881378,
          "referenceAllele": "A",
          "start": 37881377
        }
      ],
      "hgvs": [
        "NC_000017.10:g.37881378A>G",
        "CM000679.1:g.37881378A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 35134904,
          "referenceAllele": "A",
          "start": 35134903
        }
      ],
      "hgvs": [
        "NC_000017.9:g.35134904A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41986,
          "referenceAllele": "A",
          "start": 41985
        }
      ],
      "hgvs": [
        "NG_007503.1:g.41986A>G",
        "LRG_724:g.41986A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000622"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "A",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000269571.10:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269571.4:p.Asn857Ser",
        "hgvsWellDefined": "ENSP00000269571.4:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269571.10:c.2570A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004448.4:c.2570A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269571.4:p.Asn857Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004439.2:p.Asn857Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2729,
          "referenceAllele": "A",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000269571.9:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269571.4:p.Asn857Ser",
        "hgvsWellDefined": "ENSP00000269571.4:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000406381.6:c.2480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385185.2:p.Asn827Ser",
        "hgvsWellDefined": "ENSP00000385185.2:p.Asn827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "A",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000445658.6:c.1742A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404047.2:p.Asn581Ser",
        "hgvsWellDefined": "ENSP00000404047.2:p.Asn581Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2525,
          "referenceAllele": "A",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000541774.5:c.2525A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446466.1:p.Asn842Ser",
        "hgvsWellDefined": "ENSP00000446466.1:p.Asn842Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2792,
          "referenceAllele": "A",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000578373.5:c.*2360A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463427.1:n.*2360A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "referenceAllele": "A",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000580074.1:c.676A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3704,
          "referenceAllele": "A",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000583038.5:n.3704A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2785,
          "referenceAllele": "A",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000584450.5:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463714.1:p.Asn857Ser",
        "hgvsWellDefined": "ENSP00000463714.1:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3277,
          "referenceAllele": "A",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "ENST00000584601.5:c.2480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462438.1:p.Asn827Ser",
        "hgvsWellDefined": "ENSP00000462438.1:p.Asn827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123605",
      "coordinates": [
        {
          "allele": "G",
          "end": 3056,
          "referenceAllele": "A",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001005862.2:c.2480A>G",
        "LRG_724t1:c.2480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005862.1:p.Asn827Ser",
        "hgvsWellDefined": "NP_001005862.1:p.Asn827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123606",
      "coordinates": [
        {
          "allele": "G",
          "end": 3107,
          "referenceAllele": "A",
          "start": 3106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001289936.1:c.2525A>G",
        "LRG_724t4:c.2525A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276865.1:p.Asn842Ser",
        "hgvsWellDefined": "NP_001276865.1:p.Asn842Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826770785",
      "coordinates": [
        {
          "allele": "G",
          "end": 2831,
          "referenceAllele": "A",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001289937.1:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276866.1:p.Asn857Ser",
        "hgvsWellDefined": "NP_001276866.1:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123607",
      "coordinates": [
        {
          "allele": "G",
          "end": 2831,
          "referenceAllele": "A",
          "start": 2830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_004448.3:c.2570A>G",
        "LRG_724t2:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004439.2:p.Asn857Ser",
        "hgvsWellDefined": "NP_004439.2:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2894,
          "referenceAllele": "A",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NR_110535.1:n.2894A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2955,
          "referenceAllele": "A",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "XM_024450641.1:c.2708A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306409.1:p.Asn903Ser",
        "hgvsWellDefined": "XP_024306409.1:p.Asn903Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3184,
          "referenceAllele": "A",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "XM_024450642.1:c.2663A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306410.1:p.Asn888Ser",
        "hgvsWellDefined": "XP_024306410.1:p.Asn888Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3181,
          "referenceAllele": "A",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "XM_024450643.1:c.2618A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306411.1:p.Asn873Ser",
        "hgvsWellDefined": "XP_024306411.1:p.Asn873Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123605",
      "coordinates": [
        {
          "allele": "G",
          "end": 3046,
          "referenceAllele": "A",
          "start": 3045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001005862.3:c.2480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005862.1:p.Asn827Ser",
        "hgvsWellDefined": "NP_001005862.1:p.Asn827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123606",
      "coordinates": [
        {
          "allele": "G",
          "end": 3097,
          "referenceAllele": "A",
          "start": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001289936.2:c.2525A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276865.1:p.Asn842Ser",
        "hgvsWellDefined": "NP_001276865.1:p.Asn842Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826770785",
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "A",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001289937.2:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276866.1:p.Asn857Ser",
        "hgvsWellDefined": "NP_001276866.1:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828920985",
      "coordinates": [
        {
          "allele": "G",
          "end": 3353,
          "referenceAllele": "A",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382782.1:c.2480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369711.1:p.Asn827Ser",
        "hgvsWellDefined": "NP_001369711.1:p.Asn827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828921480",
      "coordinates": [
        {
          "allele": "G",
          "end": 2870,
          "referenceAllele": "A",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382783.1:c.2480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369712.1:p.Asn827Ser",
        "hgvsWellDefined": "NP_001369712.1:p.Asn827Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573077145",
      "coordinates": [
        {
          "allele": "G",
          "end": 2862,
          "referenceAllele": "A",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382784.1:c.2687A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369713.1:p.Asn896Ser",
        "hgvsWellDefined": "NP_001369713.1:p.Asn896Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828922456",
      "coordinates": [
        {
          "allele": "G",
          "end": 2847,
          "referenceAllele": "A",
          "start": 2846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382785.1:c.2672A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369714.1:p.Asn891Ser",
        "hgvsWellDefined": "NP_001369714.1:p.Asn891Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828922893",
      "coordinates": [
        {
          "allele": "G",
          "end": 2826,
          "referenceAllele": "A",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382786.1:c.2651A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369715.1:p.Asn884Ser",
        "hgvsWellDefined": "NP_001369715.1:p.Asn884Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828923369",
      "coordinates": [
        {
          "allele": "G",
          "end": 2820,
          "referenceAllele": "A",
          "start": 2819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382787.1:c.2645A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369716.1:p.Asn882Ser",
        "hgvsWellDefined": "NP_001369716.1:p.Asn882Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828923889",
      "coordinates": [
        {
          "allele": "G",
          "end": 2775,
          "referenceAllele": "A",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382788.1:c.2600A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369717.1:p.Asn867Ser",
        "hgvsWellDefined": "NP_001369717.1:p.Asn867Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828924406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2766,
          "referenceAllele": "A",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382789.1:c.2591A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369718.1:p.Asn864Ser",
        "hgvsWellDefined": "NP_001369718.1:p.Asn864Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828924925",
      "coordinates": [
        {
          "allele": "G",
          "end": 2742,
          "referenceAllele": "A",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382790.1:c.2567A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369719.1:p.Asn856Ser",
        "hgvsWellDefined": "NP_001369719.1:p.Asn856Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828925441",
      "coordinates": [
        {
          "allele": "G",
          "end": 2736,
          "referenceAllele": "A",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382791.1:c.2561A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369720.1:p.Asn854Ser",
        "hgvsWellDefined": "NP_001369720.1:p.Asn854Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828925960",
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "referenceAllele": "A",
          "start": 2708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382792.1:c.2534A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369721.1:p.Asn845Ser",
        "hgvsWellDefined": "NP_001369721.1:p.Asn845Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828926474",
      "coordinates": [
        {
          "allele": "G",
          "end": 2703,
          "referenceAllele": "A",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382793.1:c.2528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369722.1:p.Asn843Ser",
        "hgvsWellDefined": "NP_001369722.1:p.Asn843Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828926990",
      "coordinates": [
        {
          "allele": "G",
          "end": 2703,
          "referenceAllele": "A",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382794.1:c.2528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369723.1:p.Asn843Ser",
        "hgvsWellDefined": "NP_001369723.1:p.Asn843Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828927502",
      "coordinates": [
        {
          "allele": "G",
          "end": 2697,
          "referenceAllele": "A",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382795.1:c.2522A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369724.1:p.Asn841Ser",
        "hgvsWellDefined": "NP_001369724.1:p.Asn841Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828928020",
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "A",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382796.1:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369725.1:p.Asn857Ser",
        "hgvsWellDefined": "NP_001369725.1:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828928508",
      "coordinates": [
        {
          "allele": "G",
          "end": 2646,
          "referenceAllele": "A",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382797.1:c.2471A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369726.1:p.Asn824Ser",
        "hgvsWellDefined": "NP_001369726.1:p.Asn824Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2668,
          "endIntronDirection": "-",
          "endIntronOffset": 201,
          "referenceAllele": "A",
          "start": 2668,
          "startIntronDirection": "-",
          "startIntronOffset": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382798.1:c.2494-202A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369727.1:n.2494-202A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828929491",
      "coordinates": [
        {
          "allele": "G",
          "end": 2565,
          "referenceAllele": "A",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382799.1:c.2390A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369728.1:p.Asn797Ser",
        "hgvsWellDefined": "NP_001369728.1:p.Asn797Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722637"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828929978",
      "coordinates": [
        {
          "allele": "G",
          "end": 2559,
          "referenceAllele": "A",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382800.1:c.2384A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369729.1:p.Asn795Ser",
        "hgvsWellDefined": "NP_001369729.1:p.Asn795Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "endIntronDirection": "-",
          "endIntronOffset": 201,
          "referenceAllele": "A",
          "start": 2620,
          "startIntronDirection": "-",
          "startIntronOffset": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382801.1:c.2446-202A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369730.1:n.2446-202A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828930954",
      "coordinates": [
        {
          "allele": "G",
          "end": 2487,
          "referenceAllele": "A",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382802.1:c.2312A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369731.1:p.Asn771Ser",
        "hgvsWellDefined": "NP_001369731.1:p.Asn771Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828931466",
      "coordinates": [
        {
          "allele": "G",
          "end": 2703,
          "referenceAllele": "A",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382803.1:c.2528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369732.1:p.Asn843Ser",
        "hgvsWellDefined": "NP_001369732.1:p.Asn843Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828931758",
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382804.1:c.1742A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369733.1:p.Asn581Ser",
        "hgvsWellDefined": "NP_001369733.1:p.Asn581Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2383,
          "endIntronDirection": "+",
          "endIntronOffset": 1465,
          "referenceAllele": "A",
          "start": 2383,
          "startIntronDirection": "+",
          "startIntronOffset": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382805.1:c.2208+1465A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369734.1:n.2208+1465A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828932482",
      "coordinates": [
        {
          "allele": "G",
          "end": 1707,
          "referenceAllele": "A",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_001382806.1:c.1532A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369735.1:p.Asn511Ser",
        "hgvsWellDefined": "NP_001369735.1:p.Asn511Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123607",
      "coordinates": [
        {
          "allele": "G",
          "end": 2745,
          "referenceAllele": "A",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NM_004448.4:c.2570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004439.2:p.Asn857Ser",
        "hgvsWellDefined": "NP_004439.2:p.Asn857Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269571.10:c.2570A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004448.4:c.2570A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269571.4:p.Asn857Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004439.2:p.Asn857Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2808,
          "referenceAllele": "A",
          "start": 2807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003430",
      "geneNCBI_id": 2064,
      "geneSymbol": "ERBB2",
      "hgvs": [
        "NR_110535.2:n.2808A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730715"
    }
  ],
  "type": "nucleotide"
}