Canonical Allele Identifier: CA7438867

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27951878G>A , CM000677.2:g.27951878G>A	GRCh38
NC_000015.9:g.28197024G>A , CM000677.1:g.28197024G>A	GRCh37
NC_000015.8:g.25870619G>A	NCBI36
NG_009846.1:g.152435C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.1857C>T MANE Select	NP_000266.2:p.Asp619=
ENST00000354638.8:c.1857C>T MANE Select	ENSP00000346659.3:p.Asp619=
NM_000275.2:c.1857C>T	NP_000266.2:p.Asp619=
NM_001300984.1:c.1785C>T	NP_001287913.1:p.Asp595=
NM_001300984.2:c.1785C>T	NP_001287913.1:p.Asp595=
ENST00000353809.9:c.1785C>T	ENSP00000261276.8:p.Asp595=
ENST00000354638.7:c.1857C>T	ENSP00000346659.3:p.Asp619=
XM_011521639.1:c.1881C>T	XP_011519941.1:p.Asp627=
XM_011521640.1:c.1857C>T	XP_011519942.1:p.Asp619=
XM_011521640.2:c.1857C>T	XP_011519942.1:p.Asp619=
XM_011521641.1:c.1881C>T	XP_011519943.1:p.Asp627=
XM_011521642.1:c.1809C>T	XP_011519944.1:p.Asp603=
XM_011521643.1:c.1809C>T	XP_011519945.1:p.Asp603=
XM_011521644.1:c.1743C>T	XP_011519946.1:p.Asp581=
XM_011521645.1:c.1881C>T	XP_011519947.1:p.Asp627=
XM_011521646.1:c.1881C>T	XP_011519948.1:p.Asp627=
XM_011521647.1:c.*10C>T	XP_011519949.1:n.*10C>T
XM_017022255.1:c.1881C>T	XP_016877744.1:p.Asp627=
XM_017022256.1:c.1881C>T	XP_016877745.1:p.Asp627=
XM_017022257.1:c.1809C>T	XP_016877746.1:p.Asp603=
XM_017022258.1:c.1881C>T	XP_016877747.1:p.Asp627=
XM_017022259.1:c.1809C>T	XP_016877748.1:p.Asp603=
XM_017022260.1:c.1743C>T	XP_016877749.1:p.Asp581=
XM_017022261.1:c.1686C>T	XP_016877750.1:p.Asp562=
XM_017022262.1:c.1881C>T	XP_016877751.1:p.Asp627=
XM_017022263.1:c.1881C>T	XP_016877752.1:p.Asp627=
XM_017022264.1:c.1881C>T	XP_016877753.1:p.Asp627=
XM_017022265.1:c.1881C>T	XP_016877754.1:p.Asp627=