Canonical Allele Identifier: CA2166351991

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851393G= , CM000677.2:g.27851393G=	GRCh38
NC_000015.9:g.28096539G= , CM000677.1:g.28096539G=	GRCh37
NC_000015.8:g.25770134G=	NCBI36
NG_009846.1:g.252920C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2327C= MANE Select	ENSP00000346659.3:p.Ala776=
ENST00000353809.9:c.2255C=	ENSP00000261276.8:p.Ala752=
ENST00000354638.7:c.2327C=	ENSP00000346659.3:p.Ala776=
NM_000275.2:c.2327C=	NP_000266.2:p.Ala776=
NM_001300984.1:c.2255C=	NP_001287913.1:p.Ala752=
XM_011521639.1:c.2393C=	XP_011519941.1:p.Ala798=
XM_011521640.1:c.2369C=	XP_011519942.1:p.Ala790=
XM_011521641.1:c.2351C=	XP_011519943.1:p.Ala784=
XM_011521642.1:c.2321C=	XP_011519944.1:p.Ala774=
XM_011521643.1:c.2279C=	XP_011519945.1:p.Ala760=
XM_011521644.1:c.2255C=	XP_011519946.1:p.Ala752=
XM_011521645.1:c.2186C=	XP_011519947.1:p.Ala729=
XM_011521640.2:c.2369C=	XP_011519942.1:p.Ala790=
XM_017022255.1:c.2393C=	XP_016877744.1:p.Ala798=
XM_017022256.1:c.2351C=	XP_016877745.1:p.Ala784=
XM_017022257.1:c.2321C=	XP_016877746.1:p.Ala774=
XM_017022258.1:c.2351C=	XP_016877747.1:p.Ala784=
XM_017022259.1:c.2279C=	XP_016877748.1:p.Ala760=
XM_017022260.1:c.2255C=	XP_016877749.1:p.Ala752=
XM_017022261.1:c.2198C=	XP_016877750.1:p.Ala733=
XM_017022262.1:c.2268+19761C=	XP_016877751.1:n.2268+19761C=
XM_017022263.1:c.2186C=	XP_016877752.1:p.Ala729=
XM_017022264.1:c.2186C=	XP_016877753.1:p.Ala729=
NM_000275.3:c.2327C= MANE Select	NP_000266.2:p.Ala776=
NM_001300984.2:c.2255C=	NP_001287913.1:p.Ala752=