{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16606625", "communityStandardTitle": [ "NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=373286[alleleid]", "alleleId": 373286, "preferredName": "NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/391509", "RCV": [ "RCV000438911", "RCV001526694", "RCV004533123" ], "variationId": 391509 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48372457G>A?assembly=hg19", "id": "chr12:g.48372457G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.47978674G>A?assembly=hg38", "id": "chr12:g.47978674G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524114", "rs": 1057524114 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { 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"transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2796, "referenceAllele": "C", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "ENST00000337299.7:c.2611C>T" ], "proteinEffect": { "hgvs": "ENSP00000338213.6:p.Arg871Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752395", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380518.8:c.2818C>T" }, "RefSeq": { "hgvs": "NM_001844.5:c.2818C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369889.3:p.Arg940Ter" }, "RefSeq": { "hgvs": "NP_001835.3:p.Arg940Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2611, "referenceAllele": "C", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "ENST00000337299.6:c.2611C>T" ], "proteinEffect": { "hgvs": "ENSP00000338213.6:p.Arg871Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260445" }, { "coordinates": [ { "allele": "T", "end": 2983, "referenceAllele": "C", "start": 2982 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "ENST00000380518.7:c.2818C>T" ], "proteinEffect": { "hgvs": "ENSP00000369889.3:p.Arg940Ter", "hgvsWellDefined": "ENSP00000369889.3:p.Arg940_Leu1487delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272956" }, { "coordinates": [ { "allele": "T", "end": 1904, "referenceAllele": "C", "start": 1903 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "ENST00000493991.5:n.1904C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331026" }, { "@id": "http://reg.genome.network/allele/PA645416609", "coordinates": [ { "allele": "T", "end": 2999, "referenceAllele": "C", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "NM_001844.4:c.2818C>T" ], "proteinEffect": { "hgvs": "NP_001835.3:p.Arg940Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS027172" }, { "@id": "http://reg.genome.network/allele/PA2830098231", "coordinates": [ { "allele": "T", "end": 2792, "referenceAllele": "C", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "NM_033150.2:c.2611C>T" ], "proteinEffect": { "hgvs": "NP_149162.2:p.Arg871Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS039568" }, { "coordinates": [ { "allele": "T", "end": 3551, "referenceAllele": "C", "start": 3550 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_006719242.2:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_006719305.2:p.Arg988Ter", "hgvsWellDefined": "XP_006719305.2:p.Arg988_Leu1535delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073018" }, { "coordinates": [ { "allele": "T", "end": 3728, "referenceAllele": "C", "start": 3727 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537928.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011536230.1:p.Arg988Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104886" }, { "coordinates": [ { "allele": "T", "end": 3319, "referenceAllele": "C", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537929.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011536231.1:p.Arg988Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104887" }, { "coordinates": [ { "allele": "T", "end": 3320, "referenceAllele": "C", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537930.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011536232.1:p.Arg988Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104888" }, { "coordinates": [ { "allele": "T", "end": 3302, "referenceAllele": "C", "start": 3301 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537931.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011536233.1:p.Arg988Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104889" }, { "coordinates": [ { "allele": "T", "end": 3646, "referenceAllele": "C", "start": 3645 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537932.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011536234.1:p.Arg988Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104890" }, { "coordinates": [ { "allele": "T", "end": 3280, "referenceAllele": "C", "start": 3279 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537933.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011536235.1:p.Arg988Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104891" }, { "coordinates": [ { "allele": "T", "end": 3725, "referenceAllele": "C", "start": 3724 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537934.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_011536236.1:p.Arg987Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104892" }, { "coordinates": [ { "allele": "T", "end": 2254, "referenceAllele": "C", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_011537935.1:c.1906C>T" ], "proteinEffect": { "hgvs": "XP_011536237.1:p.Arg636Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS104893" }, { "coordinates": [ { "allele": "T", "end": 3084, "referenceAllele": "C", "start": 3083 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018828.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_016874317.1:p.Arg988Ter", "hgvsWellDefined": "XP_016874317.1:p.Arg988_Leu1535delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570670" }, { "coordinates": [ { "allele": "T", "end": 3081, "referenceAllele": "C", "start": 3080 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018829.1:c.2959C>T" ], "proteinEffect": { "hgvs": "XP_016874318.1:p.Arg987Ter", "hgvsWellDefined": "XP_016874318.1:p.Arg987_Leu1534delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570671" }, { "coordinates": [ { "allele": "T", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018830.1:c.2752C>T" ], "proteinEffect": { "hgvs": "XP_016874319.1:p.Arg918Ter", "hgvsWellDefined": "XP_016874319.1:p.Arg918_Leu1465delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570672" }, { "coordinates": [ { "allele": "T", "end": 3307, "referenceAllele": "C", "start": 3306 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "XM_017018831.2:c.2272C>T" ], "proteinEffect": { "hgvs": "XP_016874320.1:p.Arg758Ter", "hgvsWellDefined": "XP_016874320.1:p.Arg758_Leu1305delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570673" }, { "@id": "http://reg.genome.network/allele/PA645416609", "coordinates": [ { "allele": "T", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "NM_001844.5:c.2818C>T" ], "proteinEffect": { "hgvs": "NP_001835.3:p.Arg940Ter", "hgvsWellDefined": "NP_001835.3:p.Arg940_Leu1487delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665206", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380518.8:c.2818C>T" }, "RefSeq": { "hgvs": "NM_001844.5:c.2818C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369889.3:p.Arg940Ter" }, "RefSeq": { "hgvs": "NP_001835.3:p.Arg940Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830098231", "coordinates": [ { "allele": "T", "end": 2766, "referenceAllele": "C", "start": 2765 } ], "gene": "http://reg.genome.network/gene/GN002200", "geneNCBI_id": 1280, "geneSymbol": "COL2A1", "hgvs": [ "NM_033150.3:c.2611C>T" ], "proteinEffect": { "hgvs": "NP_149162.2:p.Arg871Ter", "hgvsWellDefined": "NP_149162.2:p.Arg871_Leu1418delinsAlaGlyGluProGlyLeuGlnGlyProAlaGlyProProGlyGluLysGlyGluProGlyAspAspGlyProSerGlyAlaGluGlyProProGlyProGlnGlyLeuAlaGlyGlnArgGlyIleValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyAlaProGlyAlaSerGlyAspArgGlyProProGlyProValGlyProProGlyLeuThrGlyProAlaGlyGluProGlyArgGluGlySerProGlyAlaAspGlyProProGlyArgAspGlyAlaAlaGlyValLysGlyAspArgGlyGluThrGlyAlaValGlyAlaProGlyAlaProGlyProProGlySerProGlyProAlaGlyProThrGlyLysGlnGlyAspArgGlyGluAlaGlyAlaGlnGlyProMetGlyProSerGlyProAlaGlyAlaArgGlyIleGlnGlyProGlnGlyProArgGlyAspLysGlyGluAlaGlyGluProGlyGluArgGlyLeuLysGlyHisArgGlyPheThrGlyLeuGlnGlyLeuProGlyProProGlyProSerGlyAspGlnGlyAlaSerGlyProAlaGlyProSerGlyProArgGlyProProGlyProValGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyProProGlyProArgGlyArgSerGlyGluThrGlyProAlaGlyProProGlyAsnProGlyProProGlyProProGlyProProGlyProGlyIleAspMetSerAlaPheAlaGlyLeuGlyProArgGluLysGlyProAspProLeuGlnTyrMetArgAlaAspGlnAlaAlaGlyGlyLeuArgGlnHisAspAlaGluValAspAlaThrLeuLysSerLeuAsnAsnGlnIleGluSerIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysLeuCysHisProGluTrpLysSerGlyAspTyrTrpIleAspProAsnGlnGlyCysThrLeuAspAlaMetLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProAsnProAlaAsnValProLysLysAsnTrpTrpSerSerLysSerLysGluLysLysHisIleTrpPheGlyGluThrIleAsnGlyGlyPheHisPheSerTyrGlyAspAspAsnLeuAlaProAsnThrAlaAsnValGlnMetThrPheLeuArgLeuLeuSerThrGluGlySerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrLeuAspGluAlaAlaGlyAsnLeuLysLysAlaLeuLeuIleGlnGlySerAsnAspValGluIleArgAlaGluGlyAsnSerArgPheThrTyrThrAlaLeuLysAspGlyCysThrLysHisThrGlyLysTrpGlyLysThrValIleGluTyrArgSerGlnLysThrSerArgLeuProIleIleAspIleAlaProMetAspIleGlyGlyProGluGlnGluPheGlyValAspIleGlyProValCysPheLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699283" } ], "type": "nucleotide" }