Canonical Allele Identifier: CA2740097237

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2976011
• ClinVar RCV Id: RCV003834097

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926228del , CM000677.2:g.27926228del	GRCh38
NC_000015.9:g.28171374del , CM000677.1:g.28171374del	GRCh37
NC_000015.8:g.25844969del	NCBI36
NG_009846.1:g.178085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1978del MANE Select	ENSP00000346659.3:p.Trp660GlyfsTer3
ENST00000353809.9:c.1906del	ENSP00000261276.8:p.Trp636GlyfsTer3
ENST00000354638.7:c.1978del	ENSP00000346659.3:p.Trp660GlyfsTer3
NM_000275.2:c.1978del	NP_000266.2:p.Trp660GlyfsTer3
NM_001300984.1:c.1906del	NP_001287913.1:p.Trp636GlyfsTer3
XM_011521639.1:c.2002del	XP_011519941.1:p.Trp668GlyfsTer3
XM_011521640.1:c.1978del	XP_011519942.1:p.Trp660GlyfsTer3
XM_011521641.1:c.2002del	XP_011519943.1:p.Trp668GlyfsTer3
XM_011521642.1:c.1930del	XP_011519944.1:p.Trp644GlyfsTer3
XM_011521643.1:c.1930del	XP_011519945.1:p.Trp644GlyfsTer3
XM_011521644.1:c.1864del	XP_011519946.1:p.Trp622GlyfsTer3
XM_011521645.1:c.2002del	XP_011519947.1:p.Trp668GlyfsTer3
XM_011521640.2:c.1978del	XP_011519942.1:p.Trp660GlyfsTer3
XM_017022255.1:c.2002del	XP_016877744.1:p.Trp668GlyfsTer3
XM_017022256.1:c.2002del	XP_016877745.1:p.Trp668GlyfsTer3
XM_017022257.1:c.1930del	XP_016877746.1:p.Trp644GlyfsTer3
XM_017022258.1:c.2002del	XP_016877747.1:p.Trp668GlyfsTer3
XM_017022259.1:c.1930del	XP_016877748.1:p.Trp644GlyfsTer3
XM_017022260.1:c.1864del	XP_016877749.1:p.Trp622GlyfsTer3
XM_017022261.1:c.1807del	XP_016877750.1:p.Trp603GlyfsTer3
XM_017022262.1:c.2002del	XP_016877751.1:p.Trp668GlyfsTer3
XM_017022263.1:c.2002del	XP_016877752.1:p.Trp668GlyfsTer3
XM_017022264.1:c.2002del	XP_016877753.1:p.Trp668GlyfsTer3
NM_000275.3:c.1978del MANE Select	NP_000266.2:p.Trp660GlyfsTer3
NM_001300984.2:c.1906del	NP_001287913.1:p.Trp636GlyfsTer3