Canonical Allele Identifier: CA391361003

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27986643T>A , CM000677.2:g.27986643T>A	GRCh38
NC_000015.9:g.28231789T>A , CM000677.1:g.28231789T>A	GRCh37
NC_000015.8:g.25905384T>A	NCBI36
NG_009846.1:g.117670A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.1183A>T MANE Select	NP_000266.2:p.Met395Leu
ENST00000354638.8:c.1183A>T MANE Select	ENSP00000346659.3:p.Met395Leu
NM_000275.2:c.1183A>T	NP_000266.2:p.Met395Leu
NM_001300984.1:c.1111A>T	NP_001287913.1:p.Met371Leu
NM_001300984.2:c.1111A>T	NP_001287913.1:p.Met371Leu
ENST00000353809.9:c.1111A>T	ENSP00000261276.8:p.Met371Leu
ENST00000354638.7:c.1183A>T	ENSP00000346659.3:p.Met395Leu
XM_011521639.1:c.1207A>T	XP_011519941.1:p.Met403Leu
XM_011521640.1:c.1183A>T	XP_011519942.1:p.Met395Leu
XM_011521640.2:c.1183A>T	XP_011519942.1:p.Met395Leu
XM_011521641.1:c.1207A>T	XP_011519943.1:p.Met403Leu
XM_011521642.1:c.1135A>T	XP_011519944.1:p.Met379Leu
XM_011521643.1:c.1135A>T	XP_011519945.1:p.Met379Leu
XM_011521644.1:c.1069A>T	XP_011519946.1:p.Met357Leu
XM_011521645.1:c.1207A>T	XP_011519947.1:p.Met403Leu
XM_011521646.1:c.1207A>T	XP_011519948.1:p.Met403Leu
XM_011521647.1:c.1207A>T	XP_011519949.1:p.Met403Leu
XM_017022255.1:c.1207A>T	XP_016877744.1:p.Met403Leu
XM_017022256.1:c.1207A>T	XP_016877745.1:p.Met403Leu
XM_017022257.1:c.1135A>T	XP_016877746.1:p.Met379Leu
XM_017022258.1:c.1207A>T	XP_016877747.1:p.Met403Leu
XM_017022259.1:c.1135A>T	XP_016877748.1:p.Met379Leu
XM_017022260.1:c.1069A>T	XP_016877749.1:p.Met357Leu
XM_017022261.1:c.1012A>T	XP_016877750.1:p.Met338Leu
XM_017022262.1:c.1207A>T	XP_016877751.1:p.Met403Leu
XM_017022263.1:c.1207A>T	XP_016877752.1:p.Met403Leu
XM_017022264.1:c.1207A>T	XP_016877753.1:p.Met403Leu
XM_017022265.1:c.1207A>T	XP_016877754.1:p.Met403Leu
XR_001751294.1:n.1296A>T
XR_931843.1:n.2568A>T