Canonical Allele Identifier: CA2530540469

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28098995_28099065del , CM000677.2:g.28098995_28099065del	GRCh38
NC_000015.9:g.28344141_28344211del , CM000677.1:g.28344141_28344211del	GRCh37
NC_000015.8:g.26017736_26017806del	NCBI36
NG_009846.1:g.5249_5319del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+160_-22+230del MANE Select	ENSP00000346659.3:n.-22+160_-22+230del
ENST00000353809.9:c.-22+160_-22+230del	ENSP00000261276.8:n.-22+160_-22+230del
ENST00000354638.7:c.-22+160_-22+230del	ENSP00000346659.3:n.-22+160_-22+230del
ENST00000431101.1:c.-22+47_-22+117del	ENSP00000415431.1:n.-22+47_-22+117del
ENST00000445578.5:c.-22+160_-22+230del	ENSP00000414425.1:n.-22+160_-22+230del
NM_000275.2:c.-22+160_-22+230del	NP_000266.2:n.-22+160_-22+230del
NM_001300984.1:c.-22+160_-22+230del	NP_001287913.1:n.-22+160_-22+230del
XM_011521640.1:c.-22+160_-22+230del	XP_011519942.1:n.-22+160_-22+230del
XM_011521640.2:c.-22+160_-22+230del	XP_011519942.1:n.-22+160_-22+230del
NM_000275.3:c.-22+160_-22+230del MANE Select	NP_000266.2:n.-22+160_-22+230del
NM_001300984.2:c.-22+160_-22+230del	NP_001287913.1:n.-22+160_-22+230del