{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6600291", "communityStandardTitle": [ "NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM6299243" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701413[alleleid]", "alleleId": 1701413, "preferredName": "NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705324", "RCV": [ "RCV002283638" ], "variationId": 1705324 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-53818498-C-T", "id": "12-53818498-C-T", "variant": "12:53818498 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.53818498C>T?assembly=hg19", "id": "chr12:g.53818498C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.53424714C>T?assembly=hg38", "id": "chr12:g.53424714C>T" } ], 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], "hgvs": [ "NC_000012.11:g.53818498C>T", "CM000674.1:g.53818498C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 52104765, "referenceAllele": "C", "start": 52104764 } ], "hgvs": [ "NC_000012.10:g.52104765C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 5860, "referenceAllele": "C", "start": 5859 } ], "hgvs": [ "NG_015981.1:g.5860C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002934" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "ENST00000257863.9:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000257863.3:p.Arg80Ter", "hgvsWellDefined": "ENSP00000257863.3:p.Arg80_Val573delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAspSerSerProProProPheGlnLeuAlaTyrGluAlaGluLeuGlyAsnThrProThrSerAspGluLeuTrpAlaLeuAlaValGlnGluArgArgArgProTyrIleProSerThrTrpArgCysPheAlaThrAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741858", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257863.9:c.238C>T" }, "RefSeq": { "hgvs": "NM_020547.3:c.238C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257863.3:p.Arg80Ter" }, "RefSeq": { "hgvs": "NP_065434.1:p.Arg80Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "ENST00000257863.8:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000257863.3:p.Arg80Ter", "hgvsWellDefined": "ENSP00000257863.3:p.Arg80_Val573delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAspSerSerProProProPheGlnLeuAlaTyrGluAlaGluLeuGlyAsnThrProThrSerAspGluLeuTrpAlaLeuAlaValGlnGluArgArgArgProTyrIleProSerThrTrpArgCysPheAlaThrAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250310" }, { "coordinates": [ { "allele": "T", "end": 238, "referenceAllele": "C", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "ENST00000379791.7:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000369117.3:p.Arg80Ter", "hgvsWellDefined": "ENSP00000369117.3:p.Arg80_Val478delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272643" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "ENST00000550311.5:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000446661.1:p.Arg80Ter", "hgvsWellDefined": "ENSP00000446661.1:p.Arg80_Gly478delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAlaValHisHisProSerAsnTrpProMetArgGlnAsnTrpAlaIleProLeuProLeuMetSerTyrGlyProTrpGlnCysArgArgGlyGlyValProThrSerHisProProGlyAlaAlaLeuProGlnThrLeuMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS367967" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "ENST00000553037.1:n.199C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369599" }, { "@id": "http://reg.genome.network/allele/PA2826000532", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "NM_001164690.1:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001158162.1:p.Arg80Ter", "hgvsWellDefined": "NP_001158162.1:p.Arg80_Gly478delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAlaValHisHisProSerAsnTrpProMetArgGlnAsnTrpAlaIleProLeuProLeuMetSerTyrGlyProTrpGlnCysArgArgGlyGlyValProThrSerHisProProGlyAlaAlaLeuProGlnThrLeuMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014621" }, { "@id": "http://reg.genome.network/allele/PA2826000598", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "NM_001164691.1:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001158163.1:p.Arg80Ter", "hgvsWellDefined": "NP_001158163.1:p.Arg80_Val478delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014622" }, { "@id": "http://reg.genome.network/allele/PA2580424313", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "NM_020547.2:c.238C>T" ], "proteinEffect": { "hgvs": "NP_065434.1:p.Arg80Ter", "hgvsWellDefined": "NP_065434.1:p.Arg80_Val573delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAspSerSerProProProPheGlnLeuAlaTyrGluAlaGluLeuGlyAsnThrProThrSerAspGluLeuTrpAlaLeuAlaValGlnGluArgArgArgProTyrIleProSerThrTrpArgCysPheAlaThrAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036453" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538173.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536475.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105130" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538174.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536476.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105131" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538175.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536477.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105132" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538176.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536478.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105133" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538177.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536479.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105134" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538178.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536480.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105135" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538179.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536481.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105136" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538180.1:c.-10C>T" ], "proteinEffect": { "hgvs": "XP_011536482.1:n.-10C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS105137" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538181.1:c.-10C>T" ], "proteinEffect": { "hgvs": "XP_011536483.1:n.-10C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS105138" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538182.1:c.-10C>T" ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105140" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538184.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536486.1:p.Arg80Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS105141" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538185.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536487.1:p.Arg80Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS105142" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538187.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536489.1:p.Arg80Ter", "hgvsWellDefined": "XP_011536489.1:p.Arg80_Ile296delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysAlaAsnIleAsnGlnValLeuProThrGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105144" }, { "@id": "http://reg.genome.network/allele/PA2826000532", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "NM_001164690.2:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001158162.1:p.Arg80Ter", "hgvsWellDefined": "NP_001158162.1:p.Arg80_Gly478delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAlaValHisHisProSerAsnTrpProMetArgGlnAsnTrpAlaIleProLeuProLeuMetSerTyrGlyProTrpGlnCysArgArgGlyGlyValProThrSerHisProProGlyAlaAlaLeuProGlnThrLeuMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511664" }, { "@id": "http://reg.genome.network/allele/PA2826000598", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "NM_001164691.2:c.238C>T" ], "proteinEffect": { "hgvs": "NP_001158163.1:p.Arg80Ter", "hgvsWellDefined": "NP_001158163.1:p.Arg80_Val478delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511665" }, { "@id": "http://reg.genome.network/allele/PA2580424313", "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "NM_020547.3:c.238C>T" ], "proteinEffect": { "hgvs": "NP_065434.1:p.Arg80Ter", "hgvsWellDefined": "NP_065434.1:p.Arg80_Val573delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProAspSerSerProProProPheGlnLeuAlaTyrGluAlaGluLeuGlyAsnThrProThrSerAspGluLeuTrpAlaLeuAlaValGlnGluArgArgArgProTyrIleProSerThrTrpArgCysPheAlaThrAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525982", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257863.9:c.238C>T" }, "RefSeq": { "hgvs": "NM_020547.3:c.238C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257863.3:p.Arg80Ter" }, "RefSeq": { "hgvs": "NP_065434.1:p.Arg80Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538183.2:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536485.1:p.Arg80Ter", "hgvsWellDefined": "XP_011536485.1:p.Arg80_Gly450delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysAspCysValCysLeuCysProArgGlyArgAlaProHisAsnSerLeuCysProIleGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluThrAlaValHisHisProSerAsnTrpProMetArgGlnAsnTrpAlaIleProLeuProLeuMetSerTyrGlyProTrpGlnCysArgArgGlyGlyValProThrSerHisProProGlyAlaAlaLeuProGlnThrLeuMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553177" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_011538184.2:c.238C>T" ], "proteinEffect": { "hgvs": "XP_011536486.1:p.Arg80Ter", "hgvsWellDefined": "XP_011536486.1:p.Arg80_Gly411delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysAspCysValCysLeuCysProArgGlyArgAlaProHisAsnSerLeuCysProIleGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluValSerSerLeuAspAsnTrpThrLeuMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553178" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_017019179.2:c.238C>T" ], "proteinEffect": { "hgvs": "XP_016874668.1:p.Arg80Ter", "hgvsWellDefined": "XP_016874668.1:p.Arg80_Pro451delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysAspCysValCysLeuCysProArgGlyArgAlaProHisAsnSerLeuCysProIleGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAlaGlyThrGlnArgTyrMetAlaProGluLeuLeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyrSerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgProGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570944" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XM_024448938.1:c.238C>T" ], "proteinEffect": { "hgvs": "XP_024304706.1:p.Arg80Ter", "hgvsWellDefined": "XP_024304706.1:p.Arg80_Val479delinsAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAlaHisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAlaAsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGlnAlaAlaProGlyGluSerIleTrpMetAlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIleLeuAlaLeuLeuGlnArgLysAsnTyrArgValArgGlyGluProValProGluProArgProAspSerGlyArgAspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGlnGlnValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnLeuGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnAlaGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleThrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuHisProLysGlySerLeuCysHisTyrLeuThrGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLeuAlaPheLeuHisGluGluArgTrpGlnAsnGlyGlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIleArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLeuThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGluAspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAlaAspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHisProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysProGluAspCysThrSerIleProAlaProThrIleLeuProCysArgProGlnArgSerAlaCysHisPheSerValGlnGlnGlyProCysSerArgAsnProGlnProAlaCysThrLeuSerProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582503" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XR_002957309.1:n.318C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603445" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XR_002957310.1:n.318C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603446" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XR_002957311.1:n.318C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603447" }, { "coordinates": [ { "allele": "T", "end": 318, "referenceAllele": "C", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000465", "geneNCBI_id": 269, "geneSymbol": "AMHR2", "hgvs": [ "XR_002957312.1:n.318C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603448" } ], "type": "nucleotide" }