{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7439501", "communityStandardTitle": [ "NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2836269[alleleid]", "alleleId": 2836269, "preferredName": "NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2677399", "RCV": [ "RCV003463221", "RCV003553961", "RCV004526261", "RCV004540683" ], "variationId": 2677399 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-28273126-G-A", "id": "15-28273126-G-A", "variant": "15:28273126 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.28273126G>A?assembly=hg19", "id": "chr15:g.28273126G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.28027980G>A?assembly=hg38", "id": "chr15:g.28027980G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201791790", "rs": 201791790 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-28273126-G-A?dataset=gnomad_r2_1", "id": "15-28273126-G-A", "variant": "15:28273126 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-28027980-G-A?dataset=gnomad_r3", "id": "15-28027980-G-A", "variant": "15:28027980 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-28027980-G-A?dataset=gnomad_r4", "id": "15-28027980-G-A", "variant": "15:28027980 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 28027980, "referenceAllele": "G", "start": 28027979 } ], "hgvs": [ "NC_000015.10:g.28027980G>A", "CM000677.2:g.28027980G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 28273126, "referenceAllele": "G", "start": 28273125 } ], "hgvs": [ "NC_000015.9:g.28273126G>A", "CM000677.1:g.28273126G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 25946721, "referenceAllele": "G", "start": 25946720 } ], "hgvs": [ "NC_000015.8:g.25946721G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 76333, "referenceAllele": "C", "start": 76332 } ], "hgvs": [ "NG_009846.1:g.76333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000354638.8:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000346659.3:p.Arg136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748587", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354638.8:c.406C>T" }, "RefSeq": { "hgvs": "NM_000275.3:c.406C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346659.3:p.Arg136Ter" }, "RefSeq": { "hgvs": "NP_000266.2:p.Arg136Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000353809.9:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000261276.8:p.Arg136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263002" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "C", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000354638.7:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000346659.3:p.Arg136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263195" }, { "coordinates": [ { "allele": "T", "end": 610, "referenceAllele": "C", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000431101.1:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000415431.1:p.Arg136Ter", "hgvsWellDefined": "ENSP00000415431.1:p.Arg136_Trp264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291459" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000445578.5:c.406C>T" ], "proteinEffect": { "hgvs": "ENSP00000414425.1:p.Arg136Ter", "hgvsWellDefined": "ENSP00000414425.1:p.Arg136Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS298346" }, { "@id": "http://reg.genome.network/allele/PA2825137175", "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_000275.2:c.406C>T" ], "proteinEffect": { "hgvs": "NP_000266.2:p.Arg136Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006337" }, { "@id": "http://reg.genome.network/allele/PA2741853879", "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_001300984.1:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001287913.1:p.Arg136Ter", "hgvsWellDefined": "NP_001287913.1:p.Arg137_Asn814delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025022" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521639.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519941.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519941.1:p.Arg145_Asn860delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088799" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521640.1:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011519942.1:p.Arg136Ter", "hgvsWellDefined": "XP_011519942.1:p.Arg137_Asn852delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088800" }, { "coordinates": [ { "allele": "T", "end": 1786, "referenceAllele": "C", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521641.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519943.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519943.1:p.Arg145_Asn846delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088801" }, { "coordinates": [ { "allele": "T", "end": 1787, "referenceAllele": "C", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521642.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519944.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519944.1:p.Arg145_Asn836delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088802" }, { "coordinates": [ { "allele": "T", "end": 1785, "referenceAllele": "C", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521643.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519945.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519945.1:p.Arg145_Asn822delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088803" }, { "coordinates": [ { "allele": "T", "end": 1787, "referenceAllele": "C", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521644.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519946.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519946.1:p.Arg145_Asn814delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088804" }, { "coordinates": [ { "allele": "T", "end": 1787, "referenceAllele": "C", "start": 1786 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521645.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519947.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519947.1:p.Arg145_Asn791delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088805" }, { "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521646.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519948.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519948.1:p.Arg145_Ser676delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyGlyLeuGlyLeuValGlnAlaGlyArgTyrTyrLeuSerThrProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088806" }, { "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521647.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_011519949.1:p.Arg144Ter", "hgvsWellDefined": "XP_011519949.1:p.Arg145_Ala623delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088807" }, { "coordinates": [ { "allele": "T", "end": 1791, "referenceAllele": "C", "start": 1790 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XR_931843.1:n.1791C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127921" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521640.2:c.406C>T" ], "proteinEffect": { "hgvs": "XP_011519942.1:p.Arg136Ter", "hgvsWellDefined": "XP_011519942.1:p.Arg137_Asn852delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546251" }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "C", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022255.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877744.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877744.1:p.Arg145_Asn860delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573254" }, { "coordinates": [ { "allele": "T", "end": 994, "referenceAllele": "C", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022256.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877745.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877745.1:p.Arg145_Asn846delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573255" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022257.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877746.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877746.1:p.Arg145_Asn836delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573256" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022258.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877747.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877747.1:p.Arg145_Leu835delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLysArgGluArgGluThrArgAspValLeuAlaGlnArgLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573257" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022259.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877748.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877748.1:p.Arg145_Asn822delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573258" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022260.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877749.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877749.1:p.Arg145_Asn814delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573259" }, { "coordinates": [ { "allele": "T", "end": 1013, "referenceAllele": "C", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022261.1:c.235C>T" ], "proteinEffect": { "hgvs": "XP_016877750.1:p.Arg79Ter", "hgvsWellDefined": "XP_016877750.1:p.Arg80_Asn795delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleAspThrSerTyrLeuArgIleHisGlnLeuValLeuLysIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573260" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022262.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877751.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877751.1:p.Arg145_Asp793delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetAlaGlyLeuProAsnAspGlyCysValLeuHisCysTrpAspValLeuSerProCysGlySerCysGlyGlyGlyMetGluLeuIleAspIleHisLeuLeuLeuGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573261" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022263.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877752.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877752.1:p.Arg145_Asn791delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573262" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022264.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877753.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877753.1:p.Arg145_Leu780delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLysArgGluArgGluThrArgAspValLeuAlaGlnArgLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573263" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022265.1:c.430C>T" ], "proteinEffect": { "hgvs": "XP_016877754.1:p.Arg144Ter", "hgvsWellDefined": "XP_016877754.1:p.Arg145_Ser676delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyGlyLeuGlyLeuValGlnAlaGlyArgTyrTyrLeuSerThrProGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573264" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XR_001751294.1:n.519C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598213" }, { "@id": "http://reg.genome.network/allele/PA2825137175", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_000275.3:c.406C>T" ], "proteinEffect": { "hgvs": "NP_000266.2:p.Arg136Ter", "hgvsWellDefined": "NP_000266.2:p.Arg137_Asn838delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluIleValHisArgThrLeuAlaAlaMetLeuGlySerLeuAlaAlaLeuAlaAlaLeuAlaValIleGlyAspArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662379", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354638.8:c.406C>T" }, "RefSeq": { "hgvs": "NM_000275.3:c.406C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346659.3:p.Arg136Ter" }, "RefSeq": { "hgvs": "NP_000266.2:p.Arg136Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741853879", "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_001300984.2:c.406C>T" ], "proteinEffect": { "hgvs": "NP_001287913.1:p.Arg136Ter", "hgvsWellDefined": "NP_001287913.1:p.Arg137_Asn814delinsTyrLeuLeuSerArgGluValSerGlyLeuSerAlaSerAlaSerSerGluLysGlyAspLeuLeuAspSerProHisIleArgLeuArgLeuSerLysLeuArgArgCysValGlnTrpLeuLysValMetGlyLeuPheAlaPheValValLeuCysSerIleLeuPheSerLeuTyrProAspGlnGlyLysLeuTrpGlnLeuLeuAlaLeuSerProLeuGluAsnTyrSerValAsnLeuSerSerHisValAspSerThrLeuLeuGlnValAspLeuAlaGlyAlaLeuValAlaSerGlyProSerArgProGlyArgGluGluHisIleValValGluLeuThrGlnAlaAspAlaLeuGlySerArgTrpArgArgProGlnGlnValThrHisAsnTrpThrValTyrLeuAsnProArgArgSerGluHisSerValMetSerArgThrPheGluValLeuThrArgGluThrValSerIleSerIleArgAlaSerLeuGlnGlnThrGlnAlaValProLeuLeuMetAlaHisGlnTyrLeuArgGlySerValGluThrGlnValThrIleAlaThrAlaIleLeuAlaGlyValTyrAlaLeuIleIlePheGluArgProSerLeuThrHisValValGluTrpIleAspPheGluThrLeuAlaLeuLeuPheGlyMetMetIleLeuValAlaIlePheSerGluThrGlyPhePheAspTyrCysAlaValLysAlaTyrArgLeuSerArgGlyArgValTrpAlaMetIleIleMetLeuCysLeuIleAlaAlaValLeuSerAlaPheLeuAspAsnValThrThrMetLeuLeuPheThrProValThrIleArgLeuCysGluValLeuAsnLeuAspProArgGlnValLeuIleAlaGluValIlePheThrAsnIleGlyGlyAlaAlaThrAlaIleGlyAspProProAsnValIleIleValSerAsnGlnGluLeuArgLysMetGlyLeuAspPheAlaGlyPheThrAlaHisMetPheIleGlyIleCysLeuValLeuLeuValCysPheProLeuLeuArgLeuLeuTyrTrpAsnArgLysLeuTyrAsnLysGluProSerGluIleValGluLeuLysHisGluIleHisValTrpArgLeuThrAlaGlnArgIleSerProAlaSerArgGluGluThrAlaValArgArgLeuLeuLeuGlyLysValLeuAlaLeuGluHisLeuLeuAlaArgArgLeuHisThrPheHisArgGlnIleSerGlnGluAspLysAsnTrpGluThrAsnIleGlnGluLeuGlnLysLysHisArgIleSerAspGlyIleLeuLeuAlaLysCysLeuThrValLeuGlyPheValIlePheMetPhePheLeuAsnSerPheValProGlyIleHisLeuAspLeuGlyTrpIleAlaIleLeuGlyAlaIleTrpLeuLeuIleLeuAlaAspIleHisAspPheGluIleIleLeuHisArgValGluTrpAlaThrLeuLeuPhePheAlaAlaLeuPheValLeuMetGluAlaLeuAlaHisLeuHisLeuIleGluTyrValGlyGluGlnThrAlaLeuLeuIleLysMetValProGluGluGlnArgLeuIleAlaAlaIleValLeuValValTrpValSerAlaLeuAlaSerSerLeuIleAspAsnIleProPheThrAlaThrMetIleProValLeuLeuAsnLeuSerHisAspProGluValGlyLeuProAlaProProLeuMetTyrAlaLeuAlaPheGlyAlaCysLeuGlyGlyAsnGlyThrLeuIleGlyAlaSerAlaAsnValValCysAlaGlyIleAlaGluGlnHisGlyTyrGlyPheSerPheMetGluPhePheArgLeuGlyPheProMetMetValValSerCysThrValGlyMetCysTyrLeuLeuValAlaHisValValValGlyTrpAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683292" } ], "type": "nucleotide" }