Canonical Allele Identifier: CA2166464579

Gene: OCA2

Linked Data

• dbSNP Id: rs2044853438

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28090543_28090546del , CM000677.2:g.28090543_28090546del	GRCh38
NC_000015.9:g.28335689_28335692del , CM000677.1:g.28335689_28335692del	GRCh37
NC_000015.8:g.26009284_26009287del	NCBI36
NG_009846.1:g.13769_13772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-21-8649_-21-8646del MANE Select	ENSP00000346659.3:n.-21-8649_-21-8646del
ENST00000353809.9:c.-21-8649_-21-8646del	ENSP00000261276.8:n.-21-8649_-21-8646del
ENST00000354638.7:c.-21-8649_-21-8646del	ENSP00000346659.3:n.-21-8649_-21-8646del
ENST00000431101.1:c.-22+8567_-22+8570del	ENSP00000415431.1:n.-22+8567_-22+8570del
ENST00000445578.5:c.-21-8649_-21-8646del	ENSP00000414425.1:n.-21-8649_-21-8646del
NM_000275.2:c.-21-8649_-21-8646del	NP_000266.2:n.-21-8649_-21-8646del
NM_001300984.1:c.-21-8649_-21-8646del	NP_001287913.1:n.-21-8649_-21-8646del
XM_011521640.1:c.-21-8649_-21-8646del	XP_011519942.1:n.-21-8649_-21-8646del
XM_011521640.2:c.-21-8649_-21-8646del	XP_011519942.1:n.-21-8649_-21-8646del
NM_000275.3:c.-21-8649_-21-8646del MANE Select	NP_000266.2:n.-21-8649_-21-8646del
NM_001300984.2:c.-21-8649_-21-8646del	NP_001287913.1:n.-21-8649_-21-8646del