Canonical Allele Identifier: CA2166365075

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926178_27926179delinsTC , CM000677.2:g.27926178_27926179delinsTC	GRCh38
NC_000015.9:g.28171324_28171325delinsTC , CM000677.1:g.28171324_28171325delinsTC	GRCh37
NC_000015.8:g.25844919_25844920delinsTC	NCBI36
NG_009846.1:g.178134_178135delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2027_2028delinsGA MANE Select	ENSP00000346659.3:p.Arg676=
ENST00000353809.9:c.1955_1956delinsGA	ENSP00000261276.8:p.Arg652=
ENST00000354638.7:c.2027_2028delinsGA	ENSP00000346659.3:p.Arg676=
NM_000275.2:c.2027_2028delinsGA	NP_000266.2:p.Arg676=
NM_001300984.1:c.1955_1956delinsGA	NP_001287913.1:p.Arg652=
XM_011521639.1:c.2051_2052delinsGA	XP_011519941.1:p.Arg684=
XM_011521640.1:c.2027_2028delinsGA	XP_011519942.1:p.Arg676=
XM_011521641.1:c.2051_2052delinsGA	XP_011519943.1:p.Arg684=
XM_011521642.1:c.1979_1980delinsGA	XP_011519944.1:p.Arg660=
XM_011521643.1:c.1979_1980delinsGA	XP_011519945.1:p.Arg660=
XM_011521644.1:c.1913_1914delinsGA	XP_011519946.1:p.Arg638=
XM_011521645.1:c.2051_2052delinsGA	XP_011519947.1:p.Arg684=
XM_011521640.2:c.2027_2028delinsGA	XP_011519942.1:p.Arg676=
XM_017022255.1:c.2051_2052delinsGA	XP_016877744.1:p.Arg684=
XM_017022256.1:c.2051_2052delinsGA	XP_016877745.1:p.Arg684=
XM_017022257.1:c.1979_1980delinsGA	XP_016877746.1:p.Arg660=
XM_017022258.1:c.2051_2052delinsGA	XP_016877747.1:p.Arg684=
XM_017022259.1:c.1979_1980delinsGA	XP_016877748.1:p.Arg660=
XM_017022260.1:c.1913_1914delinsGA	XP_016877749.1:p.Arg638=
XM_017022261.1:c.1856_1857delinsGA	XP_016877750.1:p.Arg619=
XM_017022262.1:c.2051_2052delinsGA	XP_016877751.1:p.Arg684=
XM_017022263.1:c.2051_2052delinsGA	XP_016877752.1:p.Arg684=
XM_017022264.1:c.2051_2052delinsGA	XP_016877753.1:p.Arg684=
NM_000275.3:c.2027_2028delinsGA MANE Select	NP_000266.2:p.Arg676=
NM_001300984.2:c.1955_1956delinsGA	NP_001287913.1:p.Arg652=