Canonical Allele Identifier: CA2627359156

Gene: OCA2

Linked Data

• gnomAD v4: 15-27983409-G-GCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983414_27983416dup , CM000677.2:g.27983414_27983416dup	GRCh38
NC_000015.9:g.28228560_28228562dup , CM000677.1:g.28228560_28228562dup	GRCh37
NC_000015.8:g.25902155_25902157dup	NCBI36
NG_009846.1:g.120901_120903dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1436_1438dup MANE Select	ENSP00000346659.3:p.Gly479_Ala480insGly
ENST00000353809.9:c.1364_1366dup	ENSP00000261276.8:p.Gly455_Ala456insGly
ENST00000354638.7:c.1436_1438dup	ENSP00000346659.3:p.Gly479_Ala480insGly
NM_000275.2:c.1436_1438dup	NP_000266.2:p.Gly479_Ala480insGly
NM_001300984.1:c.1364_1366dup	NP_001287913.1:p.Gly455_Ala456insGly
XM_011521639.1:c.1460_1462dup	XP_011519941.1:p.Gly487_Ala488insGly
XM_011521640.1:c.1436_1438dup	XP_011519942.1:p.Gly479_Ala480insGly
XM_011521641.1:c.1460_1462dup	XP_011519943.1:p.Gly487_Ala488insGly
XM_011521642.1:c.1388_1390dup	XP_011519944.1:p.Gly463_Ala464insGly
XM_011521643.1:c.1388_1390dup	XP_011519945.1:p.Gly463_Ala464insGly
XM_011521644.1:c.1322_1324dup	XP_011519946.1:p.Gly441_Ala442insGly
XM_011521645.1:c.1460_1462dup	XP_011519947.1:p.Gly487_Ala488insGly
XM_011521646.1:c.1460_1462dup	XP_011519948.1:p.Gly487_Ala488insGly
XM_011521647.1:c.1460_1462dup	XP_011519949.1:p.Gly487_Ala488insGly
XR_931843.1:n.2821_2823dup
XM_011521640.2:c.1436_1438dup	XP_011519942.1:p.Gly479_Ala480insGly
XM_017022255.1:c.1460_1462dup	XP_016877744.1:p.Gly487_Ala488insGly
XM_017022256.1:c.1460_1462dup	XP_016877745.1:p.Gly487_Ala488insGly
XM_017022257.1:c.1388_1390dup	XP_016877746.1:p.Gly463_Ala464insGly
XM_017022258.1:c.1460_1462dup	XP_016877747.1:p.Gly487_Ala488insGly
XM_017022259.1:c.1388_1390dup	XP_016877748.1:p.Gly463_Ala464insGly
XM_017022260.1:c.1322_1324dup	XP_016877749.1:p.Gly441_Ala442insGly
XM_017022261.1:c.1265_1267dup	XP_016877750.1:p.Gly422_Ala423insGly
XM_017022262.1:c.1460_1462dup	XP_016877751.1:p.Gly487_Ala488insGly
XM_017022263.1:c.1460_1462dup	XP_016877752.1:p.Gly487_Ala488insGly
XM_017022264.1:c.1460_1462dup	XP_016877753.1:p.Gly487_Ala488insGly
XM_017022265.1:c.1460_1462dup	XP_016877754.1:p.Gly487_Ala488insGly
XR_001751294.1:n.1549_1551dup
NM_000275.3:c.1436_1438dup MANE Select	NP_000266.2:p.Gly479_Ala480insGly
NM_001300984.2:c.1364_1366dup	NP_001287913.1:p.Gly455_Ala456insGly