{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA220807", "communityStandardTitle": [ "NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1073152", "active": true, "id": "COSM1073152" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29335[alleleid]", "alleleId": 29335, "preferredName": "NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14296", "RCV": [ "RCV000015366", "RCV000763556", "RCV000790757", "RCV001068136", "RCV001794447", "RCV002288491", "RCV002513061", "RCV004532360" ], "variationId": 14296 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-129802567-C-T", "id": "6-129802567-C-T", "variant": "6:129802567 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.129802567C>T?assembly=hg19", "id": "chr6:g.129802567C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.129481422C>T?assembly=hg38", "id": "chr6:g.129481422C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121913572", "rs": 121913572 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-129802567-C-T?dataset=gnomad_r2_1", "id": "6-129802567-C-T", "variant": "6:129802567 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-129481422-C-T?dataset=gnomad_r3", "id": "6-129481422-C-T", "variant": "6:129481422 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-129481422-C-T?dataset=gnomad_r4", "id": "6-129481422-C-T", "variant": "6:129481422 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 129481422, "referenceAllele": "C", "start": 129481421 } ], "hgvs": [ "NC_000006.12:g.129481422C>T", "CM000668.2:g.129481422C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 129802567, "referenceAllele": "C", "start": 129802566 } ], "hgvs": [ "NC_000006.11:g.129802567C>T", "CM000668.1:g.129802567C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 129844260, "referenceAllele": "C", "start": 129844259 } ], "hgvs": [ "NC_000006.10:g.129844260C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 603282, "referenceAllele": "C", "start": 603281 } ], "hgvs": [ "NG_008678.1:g.603282C>T", "LRG_409:g.603282C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001163" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 7828, "referenceAllele": "C", "start": 7827 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000617695.5:c.7720C>T" ], "proteinEffect": { "hgvs": "ENSP00000481744.2:p.Arg2574Ter", "hgvsWellDefined": "ENSP00000481744.2:p.Arg2575_Asn3118delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826500" }, { "coordinates": [ { "allele": "T", "end": 8104, "referenceAllele": "C", "start": 8103 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000618192.5:c.7996C>T" ], "proteinEffect": { "hgvs": "ENSP00000480802.2:p.Arg2666Ter", "hgvsWellDefined": "ENSP00000480802.2:p.Arg2667_Asn3210delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826507" }, { "coordinates": [ { "allele": "T", "end": 7840, "referenceAllele": "C", "start": 7839 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000421865.3:c.7732C>T" ], "proteinEffect": { "hgvs": "ENSP00000400365.2:p.Arg2578Ter", "hgvsWellDefined": "ENSP00000400365.2:p.Arg2579_Asn3122delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000421865.3:c.7732C>T" }, "RefSeq": { "hgvs": "NM_000426.4:c.7732C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400365.2:p.Arg2578Ter" }, "RefSeq": { "hgvs": "NP_000417.3:p.Arg2578Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7781, "referenceAllele": "C", "start": 7780 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000421865.2:c.7732C>T" ], "proteinEffect": { "hgvs": "ENSP00000400365.2:p.Arg2578Ter", "hgvsWellDefined": "ENSP00000400365.2:p.Arg2579_Asn3122delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS287006" }, { "coordinates": [ { "allele": "T", "end": 7825, "referenceAllele": "C", "start": 7824 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000617695.4:c.7720C>T" ], "proteinEffect": { "hgvs": "ENSP00000481744.1:p.Arg2574Ter", "hgvsWellDefined": "ENSP00000481744.1:p.Arg2575_Asn3118delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403589" }, { "coordinates": [ { "allele": "T", "end": 7834, "referenceAllele": "C", "start": 7833 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "ENST00000618192.4:c.7729C>T" ], "proteinEffect": { "hgvs": "ENSP00000480802.1:p.Arg2577Ter", "hgvsWellDefined": "ENSP00000480802.1:p.Arg2578_Asn3121delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403830" }, { "@id": "http://reg.genome.network/allele/PA220808", "coordinates": [ { "allele": "T", "end": 7837, "referenceAllele": "C", "start": 7836 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_000426.3:c.7732C>T", "LRG_409t1:c.7732C>T" ], "proteinEffect": { "hgvs": "NP_000417.2:p.Arg2578Ter", "hgvsWellDefined": "NP_000417.2:p.Arg2579_Asn3122delinsGlnThrGlyGlnAlaTyrTyrValIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006488" }, { "coordinates": [ { "allele": "T", "end": 7825, "referenceAllele": "C", "start": 7824 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_001079823.1:c.7720C>T" ], "proteinEffect": { "hgvs": "NP_001073291.1:p.Arg2574Ter", "hgvsWellDefined": "NP_001073291.1:p.Arg2575_Asn3118delinsGlnThrGlyGlnAlaTyrTyrValIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010103" }, { "coordinates": [ { "allele": "T", "end": 8101, "referenceAllele": "C", "start": 8100 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266981.2:c.7996C>T" ], "proteinEffect": { "hgvs": "XP_005267038.1:p.Arg2666Ter", "hgvsWellDefined": "XP_005267038.1:p.Arg2667_Asn3210delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065254" }, { "coordinates": [ { "allele": "T", "end": 8089, "referenceAllele": "C", "start": 8088 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266982.2:c.7984C>T" ], "proteinEffect": { "hgvs": "XP_005267039.1:p.Arg2662Ter", "hgvsWellDefined": "XP_005267039.1:p.Arg2663_Asn3206delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065255" }, { "coordinates": [ { "allele": "T", "end": 8095, "referenceAllele": "C", "start": 8094 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_011535820.1:c.7990C>T" ], "proteinEffect": { "hgvs": "XP_011534122.1:p.Arg2664Ter", "hgvsWellDefined": "XP_011534122.1:p.Arg2665_Asn3208delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102822" }, { "coordinates": [ { "allele": "T", "end": 8101, "referenceAllele": "C", "start": 8100 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266981.3:c.7996C>T" ], "proteinEffect": { "hgvs": "XP_005267038.1:p.Arg2666Ter", "hgvsWellDefined": "XP_005267038.1:p.Arg2667_Asn3210delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536330" }, { "coordinates": [ { "allele": "T", "end": 8089, "referenceAllele": "C", "start": 8088 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_005266982.3:c.7984C>T" ], "proteinEffect": { "hgvs": "XP_005267039.1:p.Arg2662Ter", "hgvsWellDefined": "XP_005267039.1:p.Arg2663_Asn3206delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536331" }, { "coordinates": [ { "allele": "T", "end": 8095, "referenceAllele": "C", "start": 8094 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_011535820.2:c.7990C>T" ], "proteinEffect": { "hgvs": "XP_011534122.1:p.Arg2664Ter", "hgvsWellDefined": "XP_011534122.1:p.Arg2665_Asn3208delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552197" }, { "coordinates": [ { "allele": "T", "end": 10490, "referenceAllele": "C", "start": 10489 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_017010851.2:c.8002C>T" ], "proteinEffect": { "hgvs": "XP_016866340.1:p.Arg2668Ter", "hgvsWellDefined": "XP_016866340.1:p.Arg2669_Asn3212delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564816" }, { "coordinates": [ { "allele": "T", "end": 9378, "referenceAllele": "C", "start": 9377 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "XM_017010852.1:c.6127C>T" ], "proteinEffect": { "hgvs": "XP_016866341.1:p.Arg2043Ter", "hgvsWellDefined": "XP_016866341.1:p.Arg2044_Asn2587delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS564817" }, { "@id": "http://reg.genome.network/allele/PA2573062560", "coordinates": [ { "allele": "T", "end": 7840, "referenceAllele": "C", "start": 7839 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_000426.4:c.7732C>T" ], "proteinEffect": { "hgvs": "NP_000417.3:p.Arg2578Ter", "hgvsWellDefined": "NP_000417.3:p.Arg2579_Asn3122delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674842", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000421865.3:c.7732C>T" }, "RefSeq": { "hgvs": "NM_000426.4:c.7732C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400365.2:p.Arg2578Ter" }, "RefSeq": { "hgvs": "NP_000417.3:p.Arg2578Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825454088", "coordinates": [ { "allele": "T", "end": 7828, "referenceAllele": "C", "start": 7827 } ], "gene": "http://reg.genome.network/gene/GN006482", "geneNCBI_id": 3908, "geneSymbol": "LAMA2", "hgvs": [ "NM_001079823.2:c.7720C>T" ], "proteinEffect": { "hgvs": "NP_001073291.2:p.Arg2574Ter", "hgvsWellDefined": "NP_001073291.2:p.Arg2575_Asn3118delinsGlnThrGlyGlnAlaTyrTyrAlaIleLeuLeuAsnArgGlyArgLeuGluValHisLeuSerThrGlyAlaArgThrMetArgLysIleValIleArgProGluProAsnLeuPheHisAspGlyArgGluHisSerValHisValGluArgThrArgGlyIlePheThrValGlnValAspGluAsnArgArgTyrMetGlnAsnLeuThrValGluGlnProIleGluValLysLysLeuPheValGlyGlyAlaProProGluPheGlnProSerProLeuArgAsnIleProProPheGluGlyCysIleTrpAsnLeuValIleAsnSerValProMetAspPheAlaArgProValSerPheLysAsnAlaAspIleGlyArgCysAlaHisGlnLysLeuArgGluAspGluAspGlyAlaAlaProAlaGluIleValIleGlnProGluProValProThrProAlaPheProThrProThrProValLeuThrHisGlyProCysAlaAlaGluSerGluProAlaLeuLeuIleGlySerLysGlnPheGlyLeuSerArgAsnSerHisIleAlaIleAlaPheAspAspThrLysValLysAsnArgLeuThrIleGluLeuGluValArgThrGluAlaGluSerGlyLeuLeuPheTyrMetAlaArgIleAsnHisAlaAspPheAlaThrValGlnLeuArgAsnGlyLeuProTyrPheSerTyrAspLeuGlySerGlyAspThrHisThrMetIleProThrLysIleAsnAspGlyGlnTrpHisLysIleLysIleMetArgSerLysGlnGluGlyIleLeuTyrValAspGlyAlaSerAsnArgThrIleSerProLysLysAlaAspIleLeuAspValValGlyMetLeuTyrValGlyGlyLeuProIleAsnTyrThrThrArgArgIleGlyProValThrTyrSerIleAspGlyCysValArgAsnLeuHisMetAlaGluAlaProAlaAspLeuGluGlnProThrSerSerPheHisValGlyThrCysPheAlaAsnAlaGlnArgGlyThrTyrPheAspGlyThrGlyPheAlaLysAlaValGlyGlyPheLysValGlyLeuAspLeuLeuValGluPheGluPheArgThrThrThrThrThrGlyValLeuLeuGlyIleSerSerGlnLysMetAspGlyMetGlyIleGluMetIleAspGluLysLeuMetPheHisValAspAsnGlyAlaGlyArgPheThrAlaValTyrAspAlaGlyValProGlyHisLeuCysAspGlyGlnTrpHisLysValThrAlaAsnLysIleLysHisArgIleGluLeuThrValAspGlyAsnGlnValGluAlaGlnSerProAsnProAlaSerThrSerAlaAspThrAsnAspProValPheValGlyGlyPheProAspAspLeuLysGlnPheGlyLeuThrThrSerIleProPheArgGlyCysIleArgSerLeuLysLeuThrLysGlyThrGlyLysProLeuGluValAsnPheAlaLysAlaLeuGluLeuArgGlyValGlnProValSerCysProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676226" } ], "type": "nucleotide" }