Canonical Allele Identifier: CA391360968
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs868252845

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926149G>T , CM000677.2:g.27926149G>T GRCh38
NC_000015.9:g.28171295G>T , CM000677.1:g.28171295G>T GRCh37
NC_000015.8:g.25844890G>T NCBI36
NG_009846.1:g.178164C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.2057C>A MANE Select ENSP00000346659.3:p.Ala686Glu
ENST00000353809.9:c.1985C>A ENSP00000261276.8:p.Ala662Glu
ENST00000354638.7:c.2057C>A ENSP00000346659.3:p.Ala686Glu
NM_000275.2:c.2057C>A NP_000266.2:p.Ala686Glu
NM_001300984.1:c.1985C>A NP_001287913.1:p.Ala662Glu
XM_011521639.1:c.2081C>A XP_011519941.1:p.Ala694Glu
XM_011521640.1:c.2057C>A XP_011519942.1:p.Ala686Glu
XM_011521641.1:c.2081C>A XP_011519943.1:p.Ala694Glu
XM_011521642.1:c.2009C>A XP_011519944.1:p.Ala670Glu
XM_011521643.1:c.2009C>A XP_011519945.1:p.Ala670Glu
XM_011521644.1:c.1943C>A XP_011519946.1:p.Ala648Glu
XM_011521645.1:c.2081C>A XP_011519947.1:p.Ala694Glu
XM_011521640.2:c.2057C>A XP_011519942.1:p.Ala686Glu
XM_017022255.1:c.2081C>A XP_016877744.1:p.Ala694Glu
XM_017022256.1:c.2081C>A XP_016877745.1:p.Ala694Glu
XM_017022257.1:c.2009C>A XP_016877746.1:p.Ala670Glu
XM_017022258.1:c.2081C>A XP_016877747.1:p.Ala694Glu
XM_017022259.1:c.2009C>A XP_016877748.1:p.Ala670Glu
XM_017022260.1:c.1943C>A XP_016877749.1:p.Ala648Glu
XM_017022261.1:c.1886C>A XP_016877750.1:p.Ala629Glu
XM_017022262.1:c.2081C>A XP_016877751.1:p.Ala694Glu
XM_017022263.1:c.2081C>A XP_016877752.1:p.Ala694Glu
XM_017022264.1:c.2081C>A XP_016877753.1:p.Ala694Glu
NM_000275.3:c.2057C>A MANE Select NP_000266.2:p.Ala686Glu
NM_001300984.2:c.1985C>A NP_001287913.1:p.Ala662Glu