Canonical Allele Identifier: CA2166337119

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27845047C= , CM000677.2:g.27845047C=	GRCh38
NC_000015.9:g.28090193C= , CM000677.1:g.28090193C=	GRCh37
NC_000015.8:g.25763788C=	NCBI36
NG_009846.1:g.259266G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2344G= MANE Select	NP_000266.2:p.Gly782=
ENST00000354638.8:c.2344G= MANE Select	ENSP00000346659.3:p.Gly782=
NM_000275.2:c.2344G=	NP_000266.2:p.Gly782=
NM_001300984.1:c.2272G=	NP_001287913.1:p.Gly758=
NM_001300984.2:c.2272G=	NP_001287913.1:p.Gly758=
ENST00000353809.9:c.2272G=	ENSP00000261276.8:p.Gly758=
ENST00000354638.7:c.2344G=	ENSP00000346659.3:p.Gly782=
XM_011521639.1:c.2410G=	XP_011519941.1:p.Gly804=
XM_011521640.1:c.2386G=	XP_011519942.1:p.Gly796=
XM_011521640.2:c.2386G=	XP_011519942.1:p.Gly796=
XM_011521641.1:c.2368G=	XP_011519943.1:p.Gly790=
XM_011521642.1:c.2338G=	XP_011519944.1:p.Gly780=
XM_011521643.1:c.2296G=	XP_011519945.1:p.Gly766=
XM_011521644.1:c.2272G=	XP_011519946.1:p.Gly758=
XM_011521645.1:c.2203G=	XP_011519947.1:p.Gly735=
XM_017022255.1:c.2410G=	XP_016877744.1:p.Gly804=
XM_017022256.1:c.2368G=	XP_016877745.1:p.Gly790=
XM_017022257.1:c.2338G=	XP_016877746.1:p.Gly780=
XM_017022258.1:c.2368G=	XP_016877747.1:p.Gly790=
XM_017022259.1:c.2296G=	XP_016877748.1:p.Gly766=
XM_017022260.1:c.2272G=	XP_016877749.1:p.Gly758=
XM_017022261.1:c.2215G=	XP_016877750.1:p.Gly739=
XM_017022262.1:c.2268+26107G=	XP_016877751.1:n.2268+26107G=
XM_017022263.1:c.2203G=	XP_016877752.1:p.Gly735=
XM_017022264.1:c.2203G=	XP_016877753.1:p.Gly735=