Canonical Allele Identifier: CA2166365223

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926544_27926546delinsCTT , CM000677.2:g.27926544_27926546delinsCTT	GRCh38
NC_000015.9:g.28171690_28171692delinsCTT , CM000677.1:g.28171690_28171692delinsCTT	GRCh37
NC_000015.8:g.25845285_25845287delinsCTT	NCBI36
NG_009846.1:g.177767_177769delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1952-292_1952-290delinsAAG MANE Select	ENSP00000346659.3:n.1952-292_1952-290delinsAAG
ENST00000353809.9:c.1880-292_1880-290delinsAAG	ENSP00000261276.8:n.1880-292_1880-290delinsAAG
ENST00000354638.7:c.1952-292_1952-290delinsAAG	ENSP00000346659.3:n.1952-292_1952-290delinsAAG
NM_000275.2:c.1952-292_1952-290delinsAAG	NP_000266.2:n.1952-292_1952-290delinsAAG
NM_001300984.1:c.1880-292_1880-290delinsAAG	NP_001287913.1:n.1880-292_1880-290delinsAAG
XM_011521639.1:c.1976-292_1976-290delinsAAG	XP_011519941.1:n.1976-292_1976-290delinsAAG
XM_011521640.1:c.1952-292_1952-290delinsAAG	XP_011519942.1:n.1952-292_1952-290delinsAAG
XM_011521641.1:c.1976-292_1976-290delinsAAG	XP_011519943.1:n.1976-292_1976-290delinsAAG
XM_011521642.1:c.1904-292_1904-290delinsAAG	XP_011519944.1:n.1904-292_1904-290delinsAAG
XM_011521643.1:c.1904-292_1904-290delinsAAG	XP_011519945.1:n.1904-292_1904-290delinsAAG
XM_011521644.1:c.1838-292_1838-290delinsAAG	XP_011519946.1:n.1838-292_1838-290delinsAAG
XM_011521645.1:c.1976-292_1976-290delinsAAG	XP_011519947.1:n.1976-292_1976-290delinsAAG
XM_011521640.2:c.1952-292_1952-290delinsAAG	XP_011519942.1:n.1952-292_1952-290delinsAAG
XM_017022255.1:c.1976-292_1976-290delinsAAG	XP_016877744.1:n.1976-292_1976-290delinsAAG
XM_017022256.1:c.1976-292_1976-290delinsAAG	XP_016877745.1:n.1976-292_1976-290delinsAAG
XM_017022257.1:c.1904-292_1904-290delinsAAG	XP_016877746.1:n.1904-292_1904-290delinsAAG
XM_017022258.1:c.1976-292_1976-290delinsAAG	XP_016877747.1:n.1976-292_1976-290delinsAAG
XM_017022259.1:c.1904-292_1904-290delinsAAG	XP_016877748.1:n.1904-292_1904-290delinsAAG
XM_017022260.1:c.1838-292_1838-290delinsAAG	XP_016877749.1:n.1838-292_1838-290delinsAAG
XM_017022261.1:c.1781-292_1781-290delinsAAG	XP_016877750.1:n.1781-292_1781-290delinsAAG
XM_017022262.1:c.1976-292_1976-290delinsAAG	XP_016877751.1:n.1976-292_1976-290delinsAAG
XM_017022263.1:c.1976-292_1976-290delinsAAG	XP_016877752.1:n.1976-292_1976-290delinsAAG
XM_017022264.1:c.1976-292_1976-290delinsAAG	XP_016877753.1:n.1976-292_1976-290delinsAAG
NM_000275.3:c.1952-292_1952-290delinsAAG MANE Select	NP_000266.2:n.1952-292_1952-290delinsAAG
NM_001300984.2:c.1880-292_1880-290delinsAAG	NP_001287913.1:n.1880-292_1880-290delinsAAG