Canonical Allele Identifier: CA2166351995

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851402G= , CM000677.2:g.27851402G=	GRCh38
NC_000015.9:g.28096548G= , CM000677.1:g.28096548G=	GRCh37
NC_000015.8:g.25770143G=	NCBI36
NG_009846.1:g.252911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2318C= MANE Select	ENSP00000346659.3:p.Ala773=
ENST00000353809.9:c.2246C=	ENSP00000261276.8:p.Ala749=
ENST00000354638.7:c.2318C=	ENSP00000346659.3:p.Ala773=
NM_000275.2:c.2318C=	NP_000266.2:p.Ala773=
NM_001300984.1:c.2246C=	NP_001287913.1:p.Ala749=
XM_011521639.1:c.2384C=	XP_011519941.1:p.Ala795=
XM_011521640.1:c.2360C=	XP_011519942.1:p.Ala787=
XM_011521641.1:c.2342C=	XP_011519943.1:p.Ala781=
XM_011521642.1:c.2312C=	XP_011519944.1:p.Ala771=
XM_011521643.1:c.2270C=	XP_011519945.1:p.Ala757=
XM_011521644.1:c.2246C=	XP_011519946.1:p.Ala749=
XM_011521645.1:c.2177C=	XP_011519947.1:p.Ala726=
XM_011521640.2:c.2360C=	XP_011519942.1:p.Ala787=
XM_017022255.1:c.2384C=	XP_016877744.1:p.Ala795=
XM_017022256.1:c.2342C=	XP_016877745.1:p.Ala781=
XM_017022257.1:c.2312C=	XP_016877746.1:p.Ala771=
XM_017022258.1:c.2342C=	XP_016877747.1:p.Ala781=
XM_017022259.1:c.2270C=	XP_016877748.1:p.Ala757=
XM_017022260.1:c.2246C=	XP_016877749.1:p.Ala749=
XM_017022261.1:c.2189C=	XP_016877750.1:p.Ala730=
XM_017022262.1:c.2268+19752C=	XP_016877751.1:n.2268+19752C=
XM_017022263.1:c.2177C=	XP_016877752.1:p.Ala726=
XM_017022264.1:c.2177C=	XP_016877753.1:p.Ala726=
NM_000275.3:c.2318C= MANE Select	NP_000266.2:p.Ala773=
NM_001300984.2:c.2246C=	NP_001287913.1:p.Ala749=