Canonical Allele Identifier: CA7438598

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27845032C>T , CM000677.2:g.27845032C>T	GRCh38
NC_000015.9:g.28090178C>T , CM000677.1:g.28090178C>T	GRCh37
NC_000015.8:g.25763773C>T	NCBI36
NG_009846.1:g.259281G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2359G>A MANE Select	NP_000266.2:p.Ala787Thr
ENST00000354638.8:c.2359G>A MANE Select	ENSP00000346659.3:p.Ala787Thr
NM_000275.2:c.2359G>A	NP_000266.2:p.Ala787Thr
NM_001300984.1:c.2287G>A	NP_001287913.1:p.Ala763Thr
NM_001300984.2:c.2287G>A	NP_001287913.1:p.Ala763Thr
ENST00000353809.9:c.2287G>A	ENSP00000261276.8:p.Ala763Thr
ENST00000354638.7:c.2359G>A	ENSP00000346659.3:p.Ala787Thr
XM_011521639.1:c.2425G>A	XP_011519941.1:p.Ala809Thr
XM_011521640.1:c.2401G>A	XP_011519942.1:p.Ala801Thr
XM_011521640.2:c.2401G>A	XP_011519942.1:p.Ala801Thr
XM_011521641.1:c.2383G>A	XP_011519943.1:p.Ala795Thr
XM_011521642.1:c.2353G>A	XP_011519944.1:p.Ala785Thr
XM_011521643.1:c.2311G>A	XP_011519945.1:p.Ala771Thr
XM_011521644.1:c.2287G>A	XP_011519946.1:p.Ala763Thr
XM_011521645.1:c.2218G>A	XP_011519947.1:p.Ala740Thr
XM_017022255.1:c.2425G>A	XP_016877744.1:p.Ala809Thr
XM_017022256.1:c.2383G>A	XP_016877745.1:p.Ala795Thr
XM_017022257.1:c.2353G>A	XP_016877746.1:p.Ala785Thr
XM_017022258.1:c.2383G>A	XP_016877747.1:p.Ala795Thr
XM_017022259.1:c.2311G>A	XP_016877748.1:p.Ala771Thr
XM_017022260.1:c.2287G>A	XP_016877749.1:p.Ala763Thr
XM_017022261.1:c.2230G>A	XP_016877750.1:p.Ala744Thr
XM_017022262.1:c.2268+26122G>A	XP_016877751.1:n.2268+26122G>A
XM_017022263.1:c.2218G>A	XP_016877752.1:p.Ala740Thr
XM_017022264.1:c.2218G>A	XP_016877753.1:p.Ala740Thr