Canonical Allele Identifier: CA10575784
Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209969
ClinVar RCV Id: RCV000234793
dbSNP Id: rs879253729

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926237C>G , CM000677.2:g.27926237C>G GRCh38
NC_000015.9:g.28171383C>G , CM000677.1:g.28171383C>G GRCh37
NC_000015.8:g.25844978C>G NCBI36
NG_009846.1:g.178076G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.1969G>C MANE Select ENSP00000346659.3:p.Gly657Arg
ENST00000353809.9:c.1897G>C ENSP00000261276.8:p.Gly633Arg
ENST00000354638.7:c.1969G>C ENSP00000346659.3:p.Gly657Arg
NM_000275.2:c.1969G>C NP_000266.2:p.Gly657Arg
NM_001300984.1:c.1897G>C NP_001287913.1:p.Gly633Arg
XM_011521639.1:c.1993G>C XP_011519941.1:p.Gly665Arg
XM_011521640.1:c.1969G>C XP_011519942.1:p.Gly657Arg
XM_011521641.1:c.1993G>C XP_011519943.1:p.Gly665Arg
XM_011521642.1:c.1921G>C XP_011519944.1:p.Gly641Arg
XM_011521643.1:c.1921G>C XP_011519945.1:p.Gly641Arg
XM_011521644.1:c.1855G>C XP_011519946.1:p.Gly619Arg
XM_011521645.1:c.1993G>C XP_011519947.1:p.Gly665Arg
XM_011521640.2:c.1969G>C XP_011519942.1:p.Gly657Arg
XM_017022255.1:c.1993G>C XP_016877744.1:p.Gly665Arg
XM_017022256.1:c.1993G>C XP_016877745.1:p.Gly665Arg
XM_017022257.1:c.1921G>C XP_016877746.1:p.Gly641Arg
XM_017022258.1:c.1993G>C XP_016877747.1:p.Gly665Arg
XM_017022259.1:c.1921G>C XP_016877748.1:p.Gly641Arg
XM_017022260.1:c.1855G>C XP_016877749.1:p.Gly619Arg
XM_017022261.1:c.1798G>C XP_016877750.1:p.Gly600Arg
XM_017022262.1:c.1993G>C XP_016877751.1:p.Gly665Arg
XM_017022263.1:c.1993G>C XP_016877752.1:p.Gly665Arg
XM_017022264.1:c.1993G>C XP_016877753.1:p.Gly665Arg
NM_000275.3:c.1969G>C MANE Select NP_000266.2:p.Gly657Arg
NM_001300984.2:c.1897G>C NP_001287913.1:p.Gly633Arg