Canonical Allele Identifier: CA114680
Gene: OCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 963
dbSNP Id: rs1800407

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27985172C>T , CM000677.2:g.27985172C>T GRCh38
NC_000015.9:g.28230318C>T , CM000677.1:g.28230318C>T GRCh37
NC_000015.8:g.25903913C>T NCBI36
NG_009846.1:g.119141G>A

Transcript Alleles

HGVS Amino-acid change
NM_000275.2:c.1256G>A VV NP_000266.2:p.Arg419Gln
NM_001300984.1:c.1184G>A VV NP_001287913.1:p.Arg395Gln
XM_011521639.1:c.1280G>A XP_011519941.1:p.Arg427Gln
XM_011521640.1:c.1256G>A XP_011519942.1:p.Arg419Gln
XM_011521641.1:c.1280G>A XP_011519943.1:p.Arg427Gln
XM_011521642.1:c.1208G>A XP_011519944.1:p.Arg403Gln
XM_011521643.1:c.1208G>A XP_011519945.1:p.Arg403Gln
XM_011521644.1:c.1142G>A XP_011519946.1:p.Arg381Gln
XM_011521645.1:c.1280G>A XP_011519947.1:p.Arg427Gln
XM_011521646.1:c.1280G>A XP_011519948.1:p.Arg427Gln
XM_011521647.1:c.1280G>A XP_011519949.1:p.Arg427Gln
XR_931843.1:n.2641G>A
XM_011521640.2:c.1256G>A XP_011519942.1:p.Arg419Gln
XM_017022255.1:c.1280G>A XP_016877744.1:p.Arg427Gln
XM_017022256.1:c.1280G>A XP_016877745.1:p.Arg427Gln
XM_017022257.1:c.1208G>A XP_016877746.1:p.Arg403Gln
XM_017022258.1:c.1280G>A XP_016877747.1:p.Arg427Gln
XM_017022259.1:c.1208G>A XP_016877748.1:p.Arg403Gln
XM_017022260.1:c.1142G>A XP_016877749.1:p.Arg381Gln
XM_017022261.1:c.1085G>A XP_016877750.1:p.Arg362Gln
XM_017022262.1:c.1280G>A XP_016877751.1:p.Arg427Gln
XM_017022263.1:c.1280G>A XP_016877752.1:p.Arg427Gln
XM_017022264.1:c.1280G>A XP_016877753.1:p.Arg427Gln
XM_017022265.1:c.1280G>A XP_016877754.1:p.Arg427Gln
XR_001751294.1:n.1369G>A
NM_000275.3:c.1256G>A VV MANE Preferred NP_000266.2:p.Arg419Gln
ENST00000353809.9:c.1184G>A ENSP00000261276.8:p.Arg395Gln
ENST00000354638.7:c.1256G>A ENSP00000346659.3:p.Arg419Gln