Canonical Allele Identifier: CA7438717

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27871229G>A , CM000677.2:g.27871229G>A	GRCh38
NC_000015.9:g.28116375G>A , CM000677.1:g.28116375G>A	GRCh37
NC_000015.8:g.25789970G>A	NCBI36
NG_009846.1:g.233084C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2169C>T MANE Select	NP_000266.2:p.Ala723=
ENST00000354638.8:c.2169C>T MANE Select	ENSP00000346659.3:p.Ala723=
NM_000275.2:c.2169C>T	NP_000266.2:p.Ala723=
NM_001300984.1:c.2097C>T	NP_001287913.1:p.Ala699=
NM_001300984.2:c.2097C>T	NP_001287913.1:p.Ala699=
ENST00000353809.9:c.2097C>T	ENSP00000261276.8:p.Ala699=
ENST00000354638.7:c.2169C>T	ENSP00000346659.3:p.Ala723=
XM_011521639.1:c.2193C>T	XP_011519941.1:p.Ala731=
XM_011521640.1:c.2169C>T	XP_011519942.1:p.Ala723=
XM_011521640.2:c.2169C>T	XP_011519942.1:p.Ala723=
XM_011521641.1:c.2193C>T	XP_011519943.1:p.Ala731=
XM_011521642.1:c.2121C>T	XP_011519944.1:p.Ala707=
XM_011521643.1:c.2121C>T	XP_011519945.1:p.Ala707=
XM_011521644.1:c.2055C>T	XP_011519946.1:p.Ala685=
XM_011521645.1:c.2104-19754C>T	XP_011519947.1:n.2104-19754C>T
XM_017022255.1:c.2193C>T	XP_016877744.1:p.Ala731=
XM_017022256.1:c.2193C>T	XP_016877745.1:p.Ala731=
XM_017022257.1:c.2121C>T	XP_016877746.1:p.Ala707=
XM_017022258.1:c.2193C>T	XP_016877747.1:p.Ala731=
XM_017022259.1:c.2121C>T	XP_016877748.1:p.Ala707=
XM_017022260.1:c.2055C>T	XP_016877749.1:p.Ala685=
XM_017022261.1:c.1998C>T	XP_016877750.1:p.Ala666=
XM_017022262.1:c.2193C>T	XP_016877751.1:p.Ala731=
XM_017022263.1:c.2104-19754C>T	XP_016877752.1:n.2104-19754C>T
XM_017022264.1:c.2104-19754C>T	XP_016877753.1:n.2104-19754C>T