{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10576213", "communityStandardTitle": [ "NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227840[alleleid]", "alleleId": 227840, "preferredName": "NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226035", "RCV": [ "RCV000211438" ], "variationId": 226035 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.54836506A>T?assembly=hg19", "id": "chrX:g.54836506A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.54810073A>T?assembly=hg38", "id": "chrX:g.54810073A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/875989852", "rs": 875989852 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 54810073, "referenceAllele": "A", "start": 54810072 } ], "hgvs": [ "NC_000023.11:g.54810073A>T", "CM000685.2:g.54810073A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 54836506, "referenceAllele": "A", "start": 54836505 } ], "hgvs": [ "NC_000023.10:g.54836506A>T", "CM000685.1:g.54836506A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 54853231, "referenceAllele": "A", "start": 54853230 } ], "hgvs": [ "NC_000023.9:g.54853231A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 7336, "referenceAllele": "A", "start": 7335 } ], "hgvs": [ "NG_012844.1:g.7336A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002577" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000375068.6:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000364209.1:p.Lys133Ter", "hgvsWellDefined": "ENSP00000364209.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751547", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375068.6:c.397A>T" }, "RefSeq": { "hgvs": "NM_177433.3:c.397A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364209.1:p.Lys133Ter" }, "RefSeq": { "hgvs": "NP_803182.1:p.Lys133Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "A", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000218439.8:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000218439.4:p.Lys133Ter", "hgvsWellDefined": "ENSP00000218439.4:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248142" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "A", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000347546.8:c.343A>T" ], "proteinEffect": { "hgvs": "ENSP00000336962.4:p.Lys115Ter", "hgvsWellDefined": "ENSP00000336962.4:p.Lys115_Lys588delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262370" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000375053.6:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000364193.2:p.Lys133Ter", "hgvsWellDefined": "ENSP00000364193.2:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270538" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "A", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000375058.5:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000364198.1:p.Lys133Ter", "hgvsWellDefined": "ENSP00000364198.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270541" }, { "coordinates": [ { "allele": "T", "end": 375, "referenceAllele": "A", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000375060.5:c.283A>T" ], "proteinEffect": { "hgvs": "ENSP00000364200.1:p.Lys95Ter", "hgvsWellDefined": "ENSP00000364200.1:p.Lys95_Lys521delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270542" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000375068.5:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000364209.1:p.Lys133Ter", "hgvsWellDefined": "ENSP00000364209.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270548" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000396224.1:c.397A>T" ], "proteinEffect": { "hgvs": "ENSP00000379526.1:p.Lys133Ter", "hgvsWellDefined": "ENSP00000379526.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277166" }, { "coordinates": [ { "allele": "T", "end": 122, "endIntronDirection": "-", "endIntronOffset": 44, "referenceAllele": "A", "start": 122, "startIntronDirection": "-", "startIntronOffset": 45 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000463787.5:n.123-45A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307747" }, { "coordinates": [ { "allele": "T", "end": 632, "referenceAllele": "A", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000485483.1:n.632A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324498" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "A", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000497484.1:n.540A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333711" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "A", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "ENST00000627068.2:c.283A>T" ], "proteinEffect": { "hgvs": "ENSP00000486563.1:p.Lys95Ter", "hgvsWellDefined": "ENSP00000486563.1:p.Lys95_Lys521delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS406837" }, { "@id": "http://reg.genome.network/allele/PA2829756979", "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "A", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "NM_014599.5:c.397A>T" ], "proteinEffect": { "hgvs": "NP_055414.2:p.Lys133Ter", "hgvsWellDefined": "NP_055414.2:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033294" }, { "@id": "http://reg.genome.network/allele/PA645464862", "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "NM_177433.2:c.397A>T" ], "proteinEffect": { "hgvs": "NP_803182.1:p.Lys133Ter", "hgvsWellDefined": "NP_803182.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043342" }, { "@id": "http://reg.genome.network/allele/PA916064303", "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "NM_201222.2:c.397A>T" ], "proteinEffect": { "hgvs": "NP_957516.1:p.Lys133Ter", "hgvsWellDefined": "NP_957516.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044975" }, { "@id": "http://reg.genome.network/allele/PA645464862", "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "NM_177433.3:c.397A>T" ], "proteinEffect": { "hgvs": "NP_803182.1:p.Lys133Ter", "hgvsWellDefined": "NP_803182.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672807", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375068.6:c.397A>T" }, "RefSeq": { "hgvs": "NM_177433.3:c.397A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364209.1:p.Lys133Ter" }, "RefSeq": { "hgvs": "NP_803182.1:p.Lys133Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829756979", "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "A", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "NM_014599.6:c.397A>T" ], "proteinEffect": { "hgvs": "NP_055414.2:p.Lys133Ter", "hgvsWellDefined": "NP_055414.2:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697294" }, { "@id": "http://reg.genome.network/allele/PA916064303", "coordinates": [ { "allele": "T", "end": 569, "referenceAllele": "A", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN016353", "geneNCBI_id": 10916, "geneSymbol": "MAGED2", "hgvs": [ "NM_201222.3:c.397A>T" ], "proteinEffect": { "hgvs": "NP_957516.1:p.Lys133Ter", "hgvsWellDefined": "NP_957516.1:p.Lys133_Lys606delinsValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701518" } ], "type": "nucleotide" }