Canonical Allele Identifier: CA2839366751

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27990628del , CM000677.2:g.27990628del	GRCh38
NC_000015.9:g.28235774del , CM000677.1:g.28235774del	GRCh37
NC_000015.8:g.25909369del	NCBI36
NG_009846.1:g.113685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1064del MANE Select	ENSP00000346659.3:p.Ala355GlyfsTer15
ENST00000353809.9:c.1045-962del	ENSP00000261276.8:n.1045-962del
ENST00000354638.7:c.1064del	ENSP00000346659.3:p.Ala355GlyfsTer15
NM_000275.2:c.1064del	NP_000266.2:p.Ala355GlyfsTer15
NM_001300984.1:c.1045-962del	NP_001287913.1:n.1045-962del
XM_011521639.1:c.1088del	XP_011519941.1:p.Ala363GlyfsTer15
XM_011521640.1:c.1064del	XP_011519942.1:p.Ala355GlyfsTer15
XM_011521641.1:c.1088del	XP_011519943.1:p.Ala363GlyfsTer15
XM_011521642.1:c.1069-962del	XP_011519944.1:n.1069-962del
XM_011521643.1:c.1069-962del	XP_011519945.1:n.1069-962del
XM_011521644.1:c.1069-3985del	XP_011519946.1:n.1069-3985del
XM_011521645.1:c.1088del	XP_011519947.1:p.Ala363GlyfsTer15
XM_011521646.1:c.1088del	XP_011519948.1:p.Ala363GlyfsTer15
XM_011521647.1:c.1088del	XP_011519949.1:p.Ala363GlyfsTer15
XR_931843.1:n.2449del
XM_011521640.2:c.1064del	XP_011519942.1:p.Ala355GlyfsTer15
XM_017022255.1:c.1088del	XP_016877744.1:p.Ala363GlyfsTer15
XM_017022256.1:c.1088del	XP_016877745.1:p.Ala363GlyfsTer15
XM_017022257.1:c.1069-962del	XP_016877746.1:n.1069-962del
XM_017022258.1:c.1088del	XP_016877747.1:p.Ala363GlyfsTer15
XM_017022259.1:c.1069-962del	XP_016877748.1:n.1069-962del
XM_017022260.1:c.1069-3985del	XP_016877749.1:n.1069-3985del
XM_017022261.1:c.893del	XP_016877750.1:p.Ala298GlyfsTer15
XM_017022262.1:c.1088del	XP_016877751.1:p.Ala363GlyfsTer15
XM_017022263.1:c.1088del	XP_016877752.1:p.Ala363GlyfsTer15
XM_017022264.1:c.1088del	XP_016877753.1:p.Ala363GlyfsTer15
XM_017022265.1:c.1088del	XP_016877754.1:p.Ala363GlyfsTer15
XR_001751294.1:n.1177del
NM_000275.3:c.1064del MANE Select	NP_000266.2:p.Ala355GlyfsTer15
NM_001300984.2:c.1045-962del	NP_001287913.1:n.1045-962del