Canonical Allele Identifier: CA2166351905

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851249_27851250delinsAT , CM000677.2:g.27851249_27851250delinsAT	GRCh38
NC_000015.9:g.28096395_28096396delinsAT , CM000677.1:g.28096395_28096396delinsAT	GRCh37
NC_000015.8:g.25769990_25769991delinsAT	NCBI36
NG_009846.1:g.253063_253064delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2338+132_2338+133delinsAT MANE Select	ENSP00000346659.3:n.2338+132_2338+133delinsAT
ENST00000353809.9:c.2266+132_2266+133delinsAT	ENSP00000261276.8:n.2266+132_2266+133delinsAT
ENST00000354638.7:c.2338+132_2338+133delinsAT	ENSP00000346659.3:n.2338+132_2338+133delinsAT
NM_000275.2:c.2338+132_2338+133delinsAT	NP_000266.2:n.2338+132_2338+133delinsAT
NM_001300984.1:c.2266+132_2266+133delinsAT	NP_001287913.1:n.2266+132_2266+133delinsAT
XM_011521639.1:c.2404+132_2404+133delinsAT	XP_011519941.1:n.2404+132_2404+133delinsAT
XM_011521640.1:c.2380+132_2380+133delinsAT	XP_011519942.1:n.2380+132_2380+133delinsAT
XM_011521641.1:c.2362+132_2362+133delinsAT	XP_011519943.1:n.2362+132_2362+133delinsAT
XM_011521642.1:c.2332+132_2332+133delinsAT	XP_011519944.1:n.2332+132_2332+133delinsAT
XM_011521643.1:c.2290+132_2290+133delinsAT	XP_011519945.1:n.2290+132_2290+133delinsAT
XM_011521644.1:c.2266+132_2266+133delinsAT	XP_011519946.1:n.2266+132_2266+133delinsAT
XM_011521645.1:c.2197+132_2197+133delinsAT	XP_011519947.1:n.2197+132_2197+133delinsAT
XM_011521640.2:c.2380+132_2380+133delinsAT	XP_011519942.1:n.2380+132_2380+133delinsAT
XM_017022255.1:c.2404+132_2404+133delinsAT	XP_016877744.1:n.2404+132_2404+133delinsAT
XM_017022256.1:c.2362+132_2362+133delinsAT	XP_016877745.1:n.2362+132_2362+133delinsAT
XM_017022257.1:c.2332+132_2332+133delinsAT	XP_016877746.1:n.2332+132_2332+133delinsAT
XM_017022258.1:c.2362+132_2362+133delinsAT	XP_016877747.1:n.2362+132_2362+133delinsAT
XM_017022259.1:c.2290+132_2290+133delinsAT	XP_016877748.1:n.2290+132_2290+133delinsAT
XM_017022260.1:c.2266+132_2266+133delinsAT	XP_016877749.1:n.2266+132_2266+133delinsAT
XM_017022261.1:c.2209+132_2209+133delinsAT	XP_016877750.1:n.2209+132_2209+133delinsAT
XM_017022262.1:c.2268+19904_2268+19905delinsAT	XP_016877751.1:n.2268+19904_2268+19905delinsAT
XM_017022263.1:c.2197+132_2197+133delinsAT	XP_016877752.1:n.2197+132_2197+133delinsAT
XM_017022264.1:c.2197+132_2197+133delinsAT	XP_016877753.1:n.2197+132_2197+133delinsAT
NM_000275.3:c.2338+132_2338+133delinsAT MANE Select	NP_000266.2:n.2338+132_2338+133delinsAT
NM_001300984.2:c.2266+132_2266+133delinsAT	NP_001287913.1:n.2266+132_2266+133delinsAT