{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA357985722", "communityStandardTitle": [ "NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3111616[alleleid]", "alleleId": 3111616, "preferredName": "NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2950646", "RCV": [ "RCV003809956" ], "variationId": 2950646 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.111542481C>A?assembly=hg19", "id": "chr4:g.111542481C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.110621325C>A?assembly=hg38", "id": "chr4:g.110621325C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/765382079", "rs": 765382079 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 110621325, "referenceAllele": "C", "start": 110621324 } ], "hgvs": [ "NC_000004.12:g.110621325C>A", "CM000666.2:g.110621325C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 111542481, "referenceAllele": "C", "start": 111542480 } ], "hgvs": [ "NC_000004.11:g.111542481C>A", "CM000666.1:g.111542481C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 111761930, "referenceAllele": "C", "start": 111761929 } ], "hgvs": [ "NC_000004.10:g.111761930C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 21028, "referenceAllele": "G", "start": 21027 } ], "hgvs": [ "NG_007120.1:g.21028G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000494" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 440, "endIntronDirection": "-", "endIntronOffset": 2636, "referenceAllele": "G", "start": 440, "startIntronDirection": "-", "startIntronOffset": 2637 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000613094.5:c.185-2637G>T" ], "proteinEffect": { "hgvs": "ENSP00000484763.2:n.185-2637G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826434" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000614423.5:c.148G>T" ], "proteinEffect": { "hgvs": "ENSP00000481951.2:p.Glu50Ter", "hgvsWellDefined": "ENSP00000481951.2:p.Glu50_Val290delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826452" }, { "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "G", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000616641.5:n.216G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826487" }, { "coordinates": [ { "allele": "T", "end": 220, "referenceAllele": "G", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000644488.2:n.220G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826732" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000394595.8:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000378095.4:p.Glu77Ter", "hgvsWellDefined": "ENSP00000378095.4:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753279" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "G", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000644488.1:n.292G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767840" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000644743.1:c.250G>T" ], "proteinEffect": { "hgvs": "ENSP00000495061.1:p.Glu84Ter", "hgvsWellDefined": "ENSP00000495061.1:p.Glu84_Val324delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767970", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.250G>T" }, "RefSeq": { "hgvs": "NM_000325.6:c.250G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Glu84Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Glu84Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "G", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000645131.1:n.181G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768187" }, { "coordinates": [ { "allele": "T", "end": 893, "referenceAllele": "G", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000306732.7:c.250G>T" ], "proteinEffect": { "hgvs": "ENSP00000304169.3:p.Glu84Ter", "hgvsWellDefined": "ENSP00000304169.3:p.Glu84_Val324delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255781" }, { "coordinates": [ { "allele": "T", "end": 1935, "referenceAllele": "G", "start": 1934 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000354925.6:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000347004.2:p.Glu77Ter", "hgvsWellDefined": "ENSP00000347004.2:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263282" }, { "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000355080.9:c.91G>T" ], "proteinEffect": { "hgvs": "ENSP00000347192.5:p.Glu31Ter", "hgvsWellDefined": "ENSP00000347192.5:p.Glu31_Val271delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263324" }, { "coordinates": [ { "allele": "T", "end": 440, "endIntronDirection": "-", "endIntronOffset": 2636, "referenceAllele": "G", "start": 440, "startIntronDirection": "-", "startIntronOffset": 2637 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000394595.7:c.185-2637G>T" ], "proteinEffect": { "hgvs": "ENSP00000378095.3:n.185-2637G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS276235" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000394598.6:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000378097.2:p.Glu77Ter", "hgvsWellDefined": "ENSP00000378097.2:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276237" }, { "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000511837.5:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000421454.1:p.Glu77Ter", "hgvsWellDefined": "ENSP00000421454.1:p.Glu77_Gln290del" }, "referenceSequence": "http://reg.genome.network/refseq/RS342017" }, { "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "G", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000511990.1:c.91G>T" ], "proteinEffect": { "hgvs": "ENSP00000424142.1:p.Glu31Ter", "hgvsWellDefined": "ENSP00000424142.1:p.Glu31Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS342128" }, { "coordinates": [ { "allele": "T", "end": 841, "referenceAllele": "G", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000557119.2:c.250G>T" ], "proteinEffect": { "hgvs": "ENSP00000475617.1:p.Glu84Ter", "hgvsWellDefined": "ENSP00000475617.1:p.Glu84_Leu264delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValGlyAlaSerThrGluSerGlyArgAspGlyGlyArgMetLeuTrpArgTyrArgProSerArgProGlyGluAsnValGluGlySerAlaAlaTrpGluGlyAlaGlyGlyAlaGlnLeuCysLysGlyArgArgProArgGlyGlyLeuValAlaArgLeuGlnPheProLeuArgGlyArgGlnAspCysArgProGlySerGlySerGlnSerGlyThrGlySerLeuProArgHisProAlaIleSerArgAlaGlyLeuHisGlyGlnSerProAlaGlnAspIleValPheLeuAlaCysSerCysGlnSerArgAlaAsnLysIleProThrArgProArgAlaAlaAsnArgLeuGlnProValSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372762" }, { "coordinates": [ { "allele": "T", "end": 1818, "referenceAllele": "G", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000613094.4:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000484763.1:p.Glu77Ter", "hgvsWellDefined": "ENSP00000484763.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401598" }, { "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000614423.4:c.229G>T" ], "proteinEffect": { "hgvs": "ENSP00000481951.1:p.Glu77Ter", "hgvsWellDefined": "ENSP00000481951.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402187" }, { "coordinates": [ { "allele": "T", "end": 1680, "referenceAllele": "G", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "ENST00000616641.4:c.91G>T" ], "proteinEffect": { "hgvs": "ENSP00000484909.1:p.Glu31Ter", "hgvsWellDefined": "ENSP00000484909.1:p.Glu31_Val271delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403134" }, { "@id": "http://reg.genome.network/allele/PA2741814658", "coordinates": [ { "allele": "T", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.5:c.250G>T" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Glu84Ter", "hgvsWellDefined": "NP_000316.2:p.Glu84_Val324delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006388" }, { "@id": "http://reg.genome.network/allele/PA2826271533", "coordinates": [ { "allele": "T", "end": 2052, "referenceAllele": "G", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.1:c.229G>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Glu77Ter", "hgvsWellDefined": "NP_001191326.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017634" }, { "@id": "http://reg.genome.network/allele/PA2826271608", "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204398.1:c.229G>T" ], "proteinEffect": { "hgvs": "NP_001191327.1:p.Glu77Ter", "hgvsWellDefined": "NP_001191327.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017635" }, { "@id": "http://reg.genome.network/allele/PA2826271691", "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "G", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204399.1:c.91G>T" ], "proteinEffect": { "hgvs": "NP_001191328.1:p.Glu31Ter", "hgvsWellDefined": "NP_001191328.1:p.Glu31_Val271delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017636" }, { "@id": "http://reg.genome.network/allele/PA2830327673", "coordinates": [ { "allele": "T", "end": 1818, "referenceAllele": "G", "start": 1817 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.2:c.229G>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Glu77Ter", "hgvsWellDefined": "NP_700475.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042385" }, { "@id": "http://reg.genome.network/allele/PA2830327920", "coordinates": [ { "allele": "T", "end": 1680, "referenceAllele": "G", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.2:c.91G>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Glu31Ter", "hgvsWellDefined": "NP_700476.1:p.Glu31_Val271delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042386" }, { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_006714235.2:c.229G>T" ], "proteinEffect": { "hgvs": "XP_006714298.1:p.Glu77Ter", "hgvsWellDefined": "XP_006714298.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070560" }, { "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "G", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_011532027.1:c.91G>T" ], "proteinEffect": { "hgvs": "XP_011530329.1:p.Glu31Ter", "hgvsWellDefined": "XP_011530329.1:p.Glu31_Val271delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099055" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "G", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "XM_024454090.1:c.-105G>T" ], "proteinEffect": { "hgvs": "XP_024309858.1:n.-105G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587460" }, { "@id": "http://reg.genome.network/allele/PA2741814658", "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_000325.6:c.250G>T" ], "proteinEffect": { "hgvs": "NP_000316.2:p.Glu84Ter", "hgvsWellDefined": "NP_000316.2:p.Glu84_Val324delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644743.1:c.250G>T" }, "RefSeq": { "hgvs": "NM_000325.6:c.250G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495061.1:p.Glu84Ter" }, "RefSeq": { "hgvs": "NP_000316.2:p.Glu84Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826271533", "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "G", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_001204397.2:c.229G>T" ], "proteinEffect": { "hgvs": "NP_001191326.1:p.Glu77Ter", "hgvsWellDefined": "NP_001191326.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781738" }, { "@id": "http://reg.genome.network/allele/PA2830327673", "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153426.3:c.229G>T" ], "proteinEffect": { "hgvs": "NP_700475.1:p.Glu77Ter", "hgvsWellDefined": "NP_700475.1:p.Glu77_Val317delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784313" }, { "@id": "http://reg.genome.network/allele/PA2830327920", "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN009005", "geneNCBI_id": 5308, "geneSymbol": "PITX2", "hgvs": [ "NM_153427.3:c.91G>T" ], "proteinEffect": { "hgvs": "NP_700476.1:p.Glu31Ter", "hgvsWellDefined": "NP_700476.1:p.Glu31_Val271delinsAspProSerLysLysLysArgGlnArgArgGlnArgThrHisPheThrSerGlnGlnLeuGlnGluLeuGluAlaThrPheGlnArgAsnArgTyrProAspMetSerThrArgGluGluIleAlaValTrpThrAsnLeuThrGluAlaArgValArgValTrpPheLysAsnArgArgAlaLysTrpArgLysArgGluArgAsnGlnGlnAlaGluLeuCysLysAsnGlyPheGlyProGlnPheAsnGlyLeuMetGlnProTyrAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS784314" } ], "type": "nucleotide" }