Canonical Allele Identifier: CA2166352041

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851476_27851478delinsCTG , CM000677.2:g.27851476_27851478delinsCTG	GRCh38
NC_000015.9:g.28096622_28096624delinsCTG , CM000677.1:g.28096622_28096624delinsCTG	GRCh37
NC_000015.8:g.25770217_25770219delinsCTG	NCBI36
NG_009846.1:g.252835_252837delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2245-3_2245-1delinsCAG MANE Select	ENSP00000346659.3:n.2245-3_2245-1delinsCAG
ENST00000353809.9:c.2173-3_2173-1delinsCAG	ENSP00000261276.8:n.2173-3_2173-1delinsCAG
ENST00000354638.7:c.2245-3_2245-1delinsCAG	ENSP00000346659.3:n.2245-3_2245-1delinsCAG
NM_000275.2:c.2245-3_2245-1delinsCAG	NP_000266.2:n.2245-3_2245-1delinsCAG
NM_001300984.1:c.2173-3_2173-1delinsCAG	NP_001287913.1:n.2173-3_2173-1delinsCAG
XM_011521639.1:c.2311-3_2311-1delinsCAG	XP_011519941.1:n.2311-3_2311-1delinsCAG
XM_011521640.1:c.2287-3_2287-1delinsCAG	XP_011519942.1:n.2287-3_2287-1delinsCAG
XM_011521641.1:c.2269-3_2269-1delinsCAG	XP_011519943.1:n.2269-3_2269-1delinsCAG
XM_011521642.1:c.2239-3_2239-1delinsCAG	XP_011519944.1:n.2239-3_2239-1delinsCAG
XM_011521643.1:c.2197-3_2197-1delinsCAG	XP_011519945.1:n.2197-3_2197-1delinsCAG
XM_011521644.1:c.2173-3_2173-1delinsCAG	XP_011519946.1:n.2173-3_2173-1delinsCAG
XM_011521645.1:c.2104-3_2104-1delinsCAG	XP_011519947.1:n.2104-3_2104-1delinsCAG
XM_011521640.2:c.2287-3_2287-1delinsCAG	XP_011519942.1:n.2287-3_2287-1delinsCAG
XM_017022255.1:c.2311-3_2311-1delinsCAG	XP_016877744.1:n.2311-3_2311-1delinsCAG
XM_017022256.1:c.2269-3_2269-1delinsCAG	XP_016877745.1:n.2269-3_2269-1delinsCAG
XM_017022257.1:c.2239-3_2239-1delinsCAG	XP_016877746.1:n.2239-3_2239-1delinsCAG
XM_017022258.1:c.2269-3_2269-1delinsCAG	XP_016877747.1:n.2269-3_2269-1delinsCAG
XM_017022259.1:c.2197-3_2197-1delinsCAG	XP_016877748.1:n.2197-3_2197-1delinsCAG
XM_017022260.1:c.2173-3_2173-1delinsCAG	XP_016877749.1:n.2173-3_2173-1delinsCAG
XM_017022261.1:c.2116-3_2116-1delinsCAG	XP_016877750.1:n.2116-3_2116-1delinsCAG
XM_017022262.1:c.2268+19676_2268+19678delinsCAG	XP_016877751.1:n.2268+19676_2268+19678delinsCAG
XM_017022263.1:c.2104-3_2104-1delinsCAG	XP_016877752.1:n.2104-3_2104-1delinsCAG
XM_017022264.1:c.2104-3_2104-1delinsCAG	XP_016877753.1:n.2104-3_2104-1delinsCAG
NM_000275.3:c.2245-3_2245-1delinsCAG MANE Select	NP_000266.2:n.2245-3_2245-1delinsCAG
NM_001300984.2:c.2173-3_2173-1delinsCAG	NP_001287913.1:n.2173-3_2173-1delinsCAG