Canonical Allele Identifier: CA2166364911

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27925783_27925784delinsCA , CM000677.2:g.27925783_27925784delinsCA	GRCh38
NC_000015.9:g.28170929_28170930delinsCA , CM000677.1:g.28170929_28170930delinsCA	GRCh37
NC_000015.8:g.25844524_25844525delinsCA	NCBI36
NG_009846.1:g.178529_178530delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2079+343_2079+344delinsTG MANE Select	ENSP00000346659.3:n.2079+343_2079+344delinsTG
ENST00000353809.9:c.2007+343_2007+344delinsTG	ENSP00000261276.8:n.2007+343_2007+344delinsTG
ENST00000354638.7:c.2079+343_2079+344delinsTG	ENSP00000346659.3:n.2079+343_2079+344delinsTG
NM_000275.2:c.2079+343_2079+344delinsTG	NP_000266.2:n.2079+343_2079+344delinsTG
NM_001300984.1:c.2007+343_2007+344delinsTG	NP_001287913.1:n.2007+343_2007+344delinsTG
XM_011521639.1:c.2103+343_2103+344delinsTG	XP_011519941.1:n.2103+343_2103+344delinsTG
XM_011521640.1:c.2079+343_2079+344delinsTG	XP_011519942.1:n.2079+343_2079+344delinsTG
XM_011521641.1:c.2103+343_2103+344delinsTG	XP_011519943.1:n.2103+343_2103+344delinsTG
XM_011521642.1:c.2031+343_2031+344delinsTG	XP_011519944.1:n.2031+343_2031+344delinsTG
XM_011521643.1:c.2031+343_2031+344delinsTG	XP_011519945.1:n.2031+343_2031+344delinsTG
XM_011521644.1:c.1965+343_1965+344delinsTG	XP_011519946.1:n.1965+343_1965+344delinsTG
XM_011521645.1:c.2103+343_2103+344delinsTG	XP_011519947.1:n.2103+343_2103+344delinsTG
XM_011521640.2:c.2079+343_2079+344delinsTG	XP_011519942.1:n.2079+343_2079+344delinsTG
XM_017022255.1:c.2103+343_2103+344delinsTG	XP_016877744.1:n.2103+343_2103+344delinsTG
XM_017022256.1:c.2103+343_2103+344delinsTG	XP_016877745.1:n.2103+343_2103+344delinsTG
XM_017022257.1:c.2031+343_2031+344delinsTG	XP_016877746.1:n.2031+343_2031+344delinsTG
XM_017022258.1:c.2103+343_2103+344delinsTG	XP_016877747.1:n.2103+343_2103+344delinsTG
XM_017022259.1:c.2031+343_2031+344delinsTG	XP_016877748.1:n.2031+343_2031+344delinsTG
XM_017022260.1:c.1965+343_1965+344delinsTG	XP_016877749.1:n.1965+343_1965+344delinsTG
XM_017022261.1:c.1908+343_1908+344delinsTG	XP_016877750.1:n.1908+343_1908+344delinsTG
XM_017022262.1:c.2103+343_2103+344delinsTG	XP_016877751.1:n.2103+343_2103+344delinsTG
XM_017022263.1:c.2103+343_2103+344delinsTG	XP_016877752.1:n.2103+343_2103+344delinsTG
XM_017022264.1:c.2103+343_2103+344delinsTG	XP_016877753.1:n.2103+343_2103+344delinsTG
NM_000275.3:c.2079+343_2079+344delinsTG MANE Select	NP_000266.2:n.2079+343_2079+344delinsTG
NM_001300984.2:c.2007+343_2007+344delinsTG	NP_001287913.1:n.2007+343_2007+344delinsTG