Canonical Allele Identifier: CA7438720

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27871239C>T , CM000677.2:g.27871239C>T	GRCh38
NC_000015.9:g.28116385C>T , CM000677.1:g.28116385C>T	GRCh37
NC_000015.8:g.25789980C>T	NCBI36
NG_009846.1:g.233074G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2159G>A MANE Select	NP_000266.2:p.Arg720His
ENST00000354638.8:c.2159G>A MANE Select	ENSP00000346659.3:p.Arg720His
NM_000275.2:c.2159G>A	NP_000266.2:p.Arg720His
NM_001300984.1:c.2087G>A	NP_001287913.1:p.Arg696His
NM_001300984.2:c.2087G>A	NP_001287913.1:p.Arg696His
ENST00000353809.9:c.2087G>A	ENSP00000261276.8:p.Arg696His
ENST00000354638.7:c.2159G>A	ENSP00000346659.3:p.Arg720His
XM_011521639.1:c.2183G>A	XP_011519941.1:p.Arg728His
XM_011521640.1:c.2159G>A	XP_011519942.1:p.Arg720His
XM_011521640.2:c.2159G>A	XP_011519942.1:p.Arg720His
XM_011521641.1:c.2183G>A	XP_011519943.1:p.Arg728His
XM_011521642.1:c.2111G>A	XP_011519944.1:p.Arg704His
XM_011521643.1:c.2111G>A	XP_011519945.1:p.Arg704His
XM_011521644.1:c.2045G>A	XP_011519946.1:p.Arg682His
XM_011521645.1:c.2104-19764G>A	XP_011519947.1:n.2104-19764G>A
XM_017022255.1:c.2183G>A	XP_016877744.1:p.Arg728His
XM_017022256.1:c.2183G>A	XP_016877745.1:p.Arg728His
XM_017022257.1:c.2111G>A	XP_016877746.1:p.Arg704His
XM_017022258.1:c.2183G>A	XP_016877747.1:p.Arg728His
XM_017022259.1:c.2111G>A	XP_016877748.1:p.Arg704His
XM_017022260.1:c.2045G>A	XP_016877749.1:p.Arg682His
XM_017022261.1:c.1988G>A	XP_016877750.1:p.Arg663His
XM_017022262.1:c.2183G>A	XP_016877751.1:p.Arg728His
XM_017022263.1:c.2104-19764G>A	XP_016877752.1:n.2104-19764G>A
XM_017022264.1:c.2104-19764G>A	XP_016877753.1:n.2104-19764G>A