Canonical Allele Identifier: CA2166352036

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851469C= , CM000677.2:g.27851469C=	GRCh38
NC_000015.9:g.28096615C= , CM000677.1:g.28096615C=	GRCh37
NC_000015.8:g.25770210C=	NCBI36
NG_009846.1:g.252844G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2251G= MANE Select	ENSP00000346659.3:p.Val751=
ENST00000353809.9:c.2179G=	ENSP00000261276.8:p.Val727=
ENST00000354638.7:c.2251G=	ENSP00000346659.3:p.Val751=
NM_000275.2:c.2251G=	NP_000266.2:p.Val751=
NM_001300984.1:c.2179G=	NP_001287913.1:p.Val727=
XM_011521639.1:c.2317G=	XP_011519941.1:p.Val773=
XM_011521640.1:c.2293G=	XP_011519942.1:p.Val765=
XM_011521641.1:c.2275G=	XP_011519943.1:p.Val759=
XM_011521642.1:c.2245G=	XP_011519944.1:p.Val749=
XM_011521643.1:c.2203G=	XP_011519945.1:p.Val735=
XM_011521644.1:c.2179G=	XP_011519946.1:p.Val727=
XM_011521645.1:c.2110G=	XP_011519947.1:p.Val704=
XM_011521640.2:c.2293G=	XP_011519942.1:p.Val765=
XM_017022255.1:c.2317G=	XP_016877744.1:p.Val773=
XM_017022256.1:c.2275G=	XP_016877745.1:p.Val759=
XM_017022257.1:c.2245G=	XP_016877746.1:p.Val749=
XM_017022258.1:c.2275G=	XP_016877747.1:p.Val759=
XM_017022259.1:c.2203G=	XP_016877748.1:p.Val735=
XM_017022260.1:c.2179G=	XP_016877749.1:p.Val727=
XM_017022261.1:c.2122G=	XP_016877750.1:p.Val708=
XM_017022262.1:c.2268+19685G=	XP_016877751.1:n.2268+19685G=
XM_017022263.1:c.2110G=	XP_016877752.1:p.Val704=
XM_017022264.1:c.2110G=	XP_016877753.1:p.Val704=
NM_000275.3:c.2251G= MANE Select	NP_000266.2:p.Val751=
NM_001300984.2:c.2179G=	NP_001287913.1:p.Val727=