{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5972456", "communityStandardTitle": [ "NM_000107.3(DDB2):c.200G>A (p.Arg67His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2359795[alleleid]", "alleleId": 2359795, "preferredName": "NM_000107.3(DDB2):c.200G>A (p.Arg67His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2373615", "RCV": [ "RCV003004848" ], "variationId": 2373615 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-47237959-G-A", "id": "11-47237959-G-A", "variant": "11:47237959 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.47237959G>A?assembly=hg19", "id": "chr11:g.47237959G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.47216408G>A?assembly=hg38", "id": "chr11:g.47216408G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/139674102", "rs": 139674102 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-47237959-G-A?dataset=gnomad_r2_1", "id": "11-47237959-G-A", "variant": "11:47237959 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-47216408-G-A?dataset=gnomad_r3", "id": "11-47216408-G-A", "variant": "11:47216408 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-47216408-G-A?dataset=gnomad_r4", "id": "11-47216408-G-A", "variant": "11:47216408 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 47216408, "referenceAllele": "G", "start": 47216407 } ], "hgvs": [ "NC_000011.10:g.47216408G>A", "CM000673.2:g.47216408G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 47237959, "referenceAllele": "G", "start": 47237958 } ], "hgvs": [ "NC_000011.9:g.47237959G>A", "CM000673.1:g.47237959G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 47194535, "referenceAllele": "G", "start": 47194534 } ], "hgvs": [ "NC_000011.8:g.47194535G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 6467, "referenceAllele": "G", "start": 6466 } ], "hgvs": [ "NG_009365.1:g.6467G>A", "LRG_467:g.6467G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001573" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000256996.9:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000256996.4:p.Arg67His", "hgvsWellDefined": "ENSP00000256996.4:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS741810", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256996.9:c.200G>A" }, "RefSeq": { "hgvs": "NM_000107.3:c.200G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256996.4:p.Arg67His" }, "RefSeq": { "hgvs": "NP_000098.1:p.Arg67His" } } } }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000256996.8:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000256996.3:p.Arg67His", "hgvsWellDefined": "ENSP00000256996.3:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS250232" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000378600.7:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000367863.3:p.Arg67His", "hgvsWellDefined": "ENSP00000367863.3:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272107" }, { "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "G", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000378601.7:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000367864.3:p.Arg67His", "hgvsWellDefined": "ENSP00000367864.3:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272108" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000378603.7:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000367866.3:p.Arg67His", "hgvsWellDefined": "ENSP00000367866.3:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS272110" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "G", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000610805.4:c.*66G>A" ], "proteinEffect": { "hgvs": "ENSP00000478063.1:n.*66G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS400577" }, { "coordinates": [ { "allele": "A", "end": 1314, "referenceAllele": "G", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000612309.4:n.1314G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS401251" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000614825.4:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000483718.1:p.Arg67His", "hgvsWellDefined": "ENSP00000483718.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS402362" }, { "coordinates": [ { "allele": "A", "end": 279, "referenceAllele": "G", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000615695.1:n.279G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS402730" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000616278.4:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000478411.1:p.Arg67His", "hgvsWellDefined": "ENSP00000478411.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS402996" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000617022.4:n.1297G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS403305" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000622090.4:c.209G>A" ], "proteinEffect": { "hgvs": "ENSP00000479994.1:p.Arg70His", "hgvsWellDefined": "ENSP00000479994.1:p.Arg70His" }, "referenceSequence": "http://reg.genome.network/refseq/RS405558" }, { "coordinates": [ { "allele": "A", "end": 476, "referenceAllele": "G", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "ENST00000622878.4:c.200G>A" ], "proteinEffect": { "hgvs": "ENSP00000479196.1:p.Arg67His", "hgvsWellDefined": "ENSP00000479196.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS405930" }, { "@id": "http://reg.genome.network/allele/PA2825069682", "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_000107.2:c.200G>A", "LRG_467t1:c.200G>A" ], "proteinEffect": { "hgvs": "NP_000098.1:p.Arg67His", "hgvsWellDefined": "NP_000098.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006170" }, { "@id": "http://reg.genome.network/allele/PA2826847889", "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_001300734.1:c.200G>A" ], "proteinEffect": { "hgvs": "NP_001287663.1:p.Arg67His", "hgvsWellDefined": "NP_001287663.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS024797" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "XR_242780.3:n.368G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116358" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "XR_242780.4:n.368G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605939" }, { "@id": "http://reg.genome.network/allele/PA2825069682", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_000107.3:c.200G>A" ], "proteinEffect": { "hgvs": "NP_000098.1:p.Arg67His", "hgvsWellDefined": "NP_000098.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674703", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256996.9:c.200G>A" }, "RefSeq": { "hgvs": "NM_000107.3:c.200G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256996.4:p.Arg67His" }, "RefSeq": { "hgvs": "NP_000098.1:p.Arg67His" } } } }, { "@id": "http://reg.genome.network/allele/PA2826847889", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_001300734.2:c.200G>A" ], "proteinEffect": { "hgvs": "NP_001287663.1:p.Arg67His", "hgvsWellDefined": "NP_001287663.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS716855" }, { "@id": "http://reg.genome.network/allele/PA2829287819", "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_001399874.1:c.200G>A" ], "proteinEffect": { "hgvs": "NP_001386803.1:p.Arg67His", "hgvsWellDefined": "NP_001386803.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS783297" }, { "@id": "http://reg.genome.network/allele/PA2829287850", "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_001399875.1:c.200G>A" ], "proteinEffect": { "hgvs": "NP_001386804.1:p.Arg67His", "hgvsWellDefined": "NP_001386804.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS783298" }, { "@id": "http://reg.genome.network/allele/PA2829287865", "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_001399876.1:c.200G>A" ], "proteinEffect": { "hgvs": "NP_001386805.1:p.Arg67His", "hgvsWellDefined": "NP_001386805.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS783299" }, { "@id": "http://reg.genome.network/allele/PA2580251472", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NM_001399878.1:c.200G>A" ], "proteinEffect": { "hgvs": "NP_001386807.1:p.Arg67His", "hgvsWellDefined": "NP_001386807.1:p.Arg67His" }, "referenceSequence": "http://reg.genome.network/refseq/RS783300" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NR_174610.1:n.629G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785043" }, { "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN002718", "geneNCBI_id": 1643, "geneSymbol": "DDB2", "hgvs": [ "NR_174611.1:n.487G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS785044" } ], "type": "nucleotide" }