{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA391363353", "communityStandardTitle": [ "NM_000275.3(OCA2):c.2228C>G (p.Pro743Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.28116316G>C?assembly=hg19", "id": "chr15:g.28116316G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.27871170G>C?assembly=hg38", "id": "chr15:g.27871170G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918167", "rs": 121918167 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-27871170-G-C?dataset=gnomad_r4", "id": "15-27871170-G-C", "variant": "15:27871170 G / C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 27871170, "referenceAllele": "G", "start": 27871169 } ], "hgvs": [ "NC_000015.10:g.27871170G>C", "CM000677.2:g.27871170G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 28116316, "referenceAllele": "G", "start": 28116315 } ], "hgvs": [ "NC_000015.9:g.28116316G>C", "CM000677.1:g.28116316G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 25789911, "referenceAllele": "G", "start": 25789910 } ], "hgvs": [ "NC_000015.8:g.25789911G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 233143, "referenceAllele": "C", "start": 233142 } ], "hgvs": [ "NG_009846.1:g.233143C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000354638.8:c.2228C>G" ], "proteinEffect": { "hgvs": "ENSP00000346659.3:p.Pro743Arg", "hgvsWellDefined": "ENSP00000346659.3:p.Pro743Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748587", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354638.8:c.2228C>G" }, "RefSeq": { "hgvs": "NM_000275.3:c.2228C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346659.3:p.Pro743Arg" }, "RefSeq": { "hgvs": "NP_000266.2:p.Pro743Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 2266, "referenceAllele": "C", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000353809.9:c.2156C>G" ], "proteinEffect": { "hgvs": "ENSP00000261276.8:p.Pro719Arg", "hgvsWellDefined": "ENSP00000261276.8:p.Pro719Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS263002" }, { "coordinates": [ { "allele": "G", "end": 2384, "referenceAllele": "C", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "ENST00000354638.7:c.2228C>G" ], "proteinEffect": { "hgvs": "ENSP00000346659.3:p.Pro743Arg", "hgvsWellDefined": "ENSP00000346659.3:p.Pro743Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS263195" }, { "@id": "http://reg.genome.network/allele/PA3081919888", "coordinates": [ { "allele": "G", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_000275.2:c.2228C>G" ], "proteinEffect": { "hgvs": "NP_000266.2:p.Pro743Arg", "hgvsWellDefined": "NP_000266.2:p.Pro743Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006337" }, { "coordinates": [ { "allele": "G", "end": 2266, "referenceAllele": "C", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_001300984.1:c.2156C>G" ], "proteinEffect": { "hgvs": "NP_001287913.1:p.Pro719Arg", "hgvsWellDefined": "NP_001287913.1:p.Pro719Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS025022" }, { "coordinates": [ { "allele": "G", "end": 3610, "referenceAllele": "C", "start": 3609 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521639.1:c.2252C>G" ], "proteinEffect": { "hgvs": "XP_011519941.1:p.Pro751Arg", "hgvsWellDefined": "XP_011519941.1:p.Pro751Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS088799" }, { "coordinates": [ { "allele": "G", "end": 2366, "referenceAllele": "C", "start": 2365 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521640.1:c.2228C>G" ], "proteinEffect": { "hgvs": "XP_011519942.1:p.Pro743Arg", "hgvsWellDefined": "XP_011519942.1:p.Pro743Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS088800" }, { "coordinates": [ { "allele": "G", "end": 3608, "referenceAllele": "C", "start": 3607 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521641.1:c.2252C>G" ], "proteinEffect": { "hgvs": "XP_011519943.1:p.Pro751Arg", "hgvsWellDefined": "XP_011519943.1:p.Pro751Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS088801" }, { "coordinates": [ { "allele": "G", "end": 3537, "referenceAllele": "C", "start": 3536 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521642.1:c.2180C>G" ], "proteinEffect": { "hgvs": "XP_011519944.1:p.Pro727Arg", "hgvsWellDefined": "XP_011519944.1:p.Pro727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS088802" }, { "coordinates": [ { "allele": "G", "end": 3535, "referenceAllele": "C", "start": 3534 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521643.1:c.2180C>G" ], "proteinEffect": { "hgvs": "XP_011519945.1:p.Pro727Arg", "hgvsWellDefined": "XP_011519945.1:p.Pro727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS088803" }, { "coordinates": [ { "allele": "G", "end": 3471, "referenceAllele": "C", "start": 3470 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521644.1:c.2114C>G" ], "proteinEffect": { "hgvs": "XP_011519946.1:p.Pro705Arg", "hgvsWellDefined": "XP_011519946.1:p.Pro705Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS088804" }, { "coordinates": [ { "allele": "G", "end": 3460, "endIntronDirection": "-", "endIntronOffset": 19694, "referenceAllele": "C", "start": 3460, "startIntronDirection": "-", "startIntronOffset": 19695 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521645.1:c.2104-19695C>G" ], "proteinEffect": { "hgvs": "XP_011519947.1:n.2104-19695C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS088805" }, { "coordinates": [ { "allele": "G", "end": 2368, "referenceAllele": "C", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_011521640.2:c.2228C>G" ], "proteinEffect": { "hgvs": "XP_011519942.1:p.Pro743Arg", "hgvsWellDefined": "XP_011519942.1:p.Pro743Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546251" }, { "coordinates": [ { "allele": "G", "end": 2319, "referenceAllele": "C", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022255.1:c.2252C>G" ], "proteinEffect": { "hgvs": "XP_016877744.1:p.Pro751Arg", "hgvsWellDefined": "XP_016877744.1:p.Pro751Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573254" }, { "coordinates": [ { "allele": "G", "end": 2816, "referenceAllele": "C", "start": 2815 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022256.1:c.2252C>G" ], "proteinEffect": { "hgvs": "XP_016877745.1:p.Pro751Arg", "hgvsWellDefined": "XP_016877745.1:p.Pro751Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573255" }, { "coordinates": [ { "allele": "G", "end": 2269, "referenceAllele": "C", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022257.1:c.2180C>G" ], "proteinEffect": { "hgvs": "XP_016877746.1:p.Pro727Arg", "hgvsWellDefined": "XP_016877746.1:p.Pro727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573256" }, { "coordinates": [ { "allele": "G", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022258.1:c.2252C>G" ], "proteinEffect": { "hgvs": "XP_016877747.1:p.Pro751Arg", "hgvsWellDefined": "XP_016877747.1:p.Pro751Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573257" }, { "coordinates": [ { "allele": "G", "end": 2269, "referenceAllele": "C", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022259.1:c.2180C>G" ], "proteinEffect": { "hgvs": "XP_016877748.1:p.Pro727Arg", "hgvsWellDefined": "XP_016877748.1:p.Pro727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573258" }, { "coordinates": [ { "allele": "G", "end": 2203, "referenceAllele": "C", "start": 2202 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022260.1:c.2114C>G" ], "proteinEffect": { "hgvs": "XP_016877749.1:p.Pro705Arg", "hgvsWellDefined": "XP_016877749.1:p.Pro705Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573259" }, { "coordinates": [ { "allele": "G", "end": 2835, "referenceAllele": "C", "start": 2834 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022261.1:c.2057C>G" ], "proteinEffect": { "hgvs": "XP_016877750.1:p.Pro686Arg", "hgvsWellDefined": "XP_016877750.1:p.Pro686Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573260" }, { "coordinates": [ { "allele": "G", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022262.1:c.2252C>G" ], "proteinEffect": { "hgvs": "XP_016877751.1:p.Pro751Arg", "hgvsWellDefined": "XP_016877751.1:p.Pro751Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573261" }, { "coordinates": [ { "allele": "G", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 19694, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 19695 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022263.1:c.2104-19695C>G" ], "proteinEffect": { "hgvs": "XP_016877752.1:n.2104-19695C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS573262" }, { "coordinates": [ { "allele": "G", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 19694, "referenceAllele": "C", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 19695 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "XM_017022264.1:c.2104-19695C>G" ], "proteinEffect": { "hgvs": "XP_016877753.1:n.2104-19695C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS573263" }, { "@id": "http://reg.genome.network/allele/PA3081919888", "coordinates": [ { "allele": "G", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_000275.3:c.2228C>G" ], "proteinEffect": { "hgvs": "NP_000266.2:p.Pro743Arg", "hgvsWellDefined": "NP_000266.2:p.Pro743Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS662379", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354638.8:c.2228C>G" }, "RefSeq": { "hgvs": "NM_000275.3:c.2228C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346659.3:p.Pro743Arg" }, "RefSeq": { "hgvs": "NP_000266.2:p.Pro743Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 2269, "referenceAllele": "C", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN008101", "geneNCBI_id": 4948, "geneSymbol": "OCA2", "hgvs": [ "NM_001300984.2:c.2156C>G" ], "proteinEffect": { "hgvs": "NP_001287913.1:p.Pro719Arg", "hgvsWellDefined": "NP_001287913.1:p.Pro719Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS683292" } ], "type": "nucleotide" }