Canonical Allele Identifier: CA2166415593

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27989601C= , CM000677.2:g.27989601C=	GRCh38
NC_000015.9:g.28234747C= , CM000677.1:g.28234747C=	GRCh37
NC_000015.8:g.25908342C=	NCBI36
NG_009846.1:g.114712G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1182G= MANE Select	ENSP00000346659.3:p.Met394=
ENST00000353809.9:c.1110G=	ENSP00000261276.8:p.Met370=
ENST00000354638.7:c.1182G=	ENSP00000346659.3:p.Met394=
NM_000275.2:c.1182G=	NP_000266.2:p.Met394=
NM_001300984.1:c.1110G=	NP_001287913.1:p.Met370=
XM_011521639.1:c.1206G=	XP_011519941.1:p.Met402=
XM_011521640.1:c.1182G=	XP_011519942.1:p.Met394=
XM_011521641.1:c.1206G=	XP_011519943.1:p.Met402=
XM_011521642.1:c.1134G=	XP_011519944.1:p.Met378=
XM_011521643.1:c.1134G=	XP_011519945.1:p.Met378=
XM_011521644.1:c.1069-2958G=	XP_011519946.1:n.1069-2958G=
XM_011521645.1:c.1206G=	XP_011519947.1:p.Met402=
XM_011521646.1:c.1206G=	XP_011519948.1:p.Met402=
XM_011521647.1:c.1206G=	XP_011519949.1:p.Met402=
XR_931843.1:n.2567G=
XM_011521640.2:c.1182G=	XP_011519942.1:p.Met394=
XM_017022255.1:c.1206G=	XP_016877744.1:p.Met402=
XM_017022256.1:c.1206G=	XP_016877745.1:p.Met402=
XM_017022257.1:c.1134G=	XP_016877746.1:p.Met378=
XM_017022258.1:c.1206G=	XP_016877747.1:p.Met402=
XM_017022259.1:c.1134G=	XP_016877748.1:p.Met378=
XM_017022260.1:c.1069-2958G=	XP_016877749.1:n.1069-2958G=
XM_017022261.1:c.1011G=	XP_016877750.1:p.Met337=
XM_017022262.1:c.1206G=	XP_016877751.1:p.Met402=
XM_017022263.1:c.1206G=	XP_016877752.1:p.Met402=
XM_017022264.1:c.1206G=	XP_016877753.1:p.Met402=
XM_017022265.1:c.1206G=	XP_016877754.1:p.Met402=
XR_001751294.1:n.1295G=
NM_000275.3:c.1182G= MANE Select	NP_000266.2:p.Met394=
NM_001300984.2:c.1110G=	NP_001287913.1:p.Met370=