Canonical Allele Identifier: CA7439072

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27985065T>C , CM000677.2:g.27985065T>C	GRCh38
NC_000015.9:g.28230211T>C , CM000677.1:g.28230211T>C	GRCh37
NC_000015.8:g.25903806T>C	NCBI36
NG_009846.1:g.119248A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.1363A>G MANE Select	NP_000266.2:p.Arg455Gly
ENST00000354638.8:c.1363A>G MANE Select	ENSP00000346659.3:p.Arg455Gly
NM_000275.2:c.1363A>G	NP_000266.2:p.Arg455Gly
NM_001300984.1:c.1291A>G	NP_001287913.1:p.Arg431Gly
NM_001300984.2:c.1291A>G	NP_001287913.1:p.Arg431Gly
ENST00000353809.9:c.1291A>G	ENSP00000261276.8:p.Arg431Gly
ENST00000354638.7:c.1363A>G	ENSP00000346659.3:p.Arg455Gly
XM_011521639.1:c.1387A>G	XP_011519941.1:p.Arg463Gly
XM_011521640.1:c.1363A>G	XP_011519942.1:p.Arg455Gly
XM_011521640.2:c.1363A>G	XP_011519942.1:p.Arg455Gly
XM_011521641.1:c.1387A>G	XP_011519943.1:p.Arg463Gly
XM_011521642.1:c.1315A>G	XP_011519944.1:p.Arg439Gly
XM_011521643.1:c.1315A>G	XP_011519945.1:p.Arg439Gly
XM_011521644.1:c.1249A>G	XP_011519946.1:p.Arg417Gly
XM_011521645.1:c.1387A>G	XP_011519947.1:p.Arg463Gly
XM_011521646.1:c.1387A>G	XP_011519948.1:p.Arg463Gly
XM_011521647.1:c.1387A>G	XP_011519949.1:p.Arg463Gly
XM_017022255.1:c.1387A>G	XP_016877744.1:p.Arg463Gly
XM_017022256.1:c.1387A>G	XP_016877745.1:p.Arg463Gly
XM_017022257.1:c.1315A>G	XP_016877746.1:p.Arg439Gly
XM_017022258.1:c.1387A>G	XP_016877747.1:p.Arg463Gly
XM_017022259.1:c.1315A>G	XP_016877748.1:p.Arg439Gly
XM_017022260.1:c.1249A>G	XP_016877749.1:p.Arg417Gly
XM_017022261.1:c.1192A>G	XP_016877750.1:p.Arg398Gly
XM_017022262.1:c.1387A>G	XP_016877751.1:p.Arg463Gly
XM_017022263.1:c.1387A>G	XP_016877752.1:p.Arg463Gly
XM_017022264.1:c.1387A>G	XP_016877753.1:p.Arg463Gly
XM_017022265.1:c.1387A>G	XP_016877754.1:p.Arg463Gly
XR_001751294.1:n.1476A>G
XR_931843.1:n.2748A>G