Canonical Allele Identifier: CA2166468627

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093554_28093555delinsTA , CM000677.2:g.28093554_28093555delinsTA	GRCh38
NC_000015.9:g.28338700_28338701delinsTA , CM000677.1:g.28338700_28338701delinsTA	GRCh37
NC_000015.8:g.26012295_26012296delinsTA	NCBI36
NG_009846.1:g.10758_10759delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5669_-22+5670delinsTA MANE Select	ENSP00000346659.3:n.-22+5669_-22+5670delinsTA
ENST00000353809.9:c.-22+5669_-22+5670delinsTA	ENSP00000261276.8:n.-22+5669_-22+5670delinsTA
ENST00000354638.7:c.-22+5669_-22+5670delinsTA	ENSP00000346659.3:n.-22+5669_-22+5670delinsTA
ENST00000431101.1:c.-22+5556_-22+5557delinsTA	ENSP00000415431.1:n.-22+5556_-22+5557delinsTA
ENST00000445578.5:c.-22+5669_-22+5670delinsTA	ENSP00000414425.1:n.-22+5669_-22+5670delinsTA
NM_000275.2:c.-22+5669_-22+5670delinsTA	NP_000266.2:n.-22+5669_-22+5670delinsTA
NM_001300984.1:c.-22+5669_-22+5670delinsTA	NP_001287913.1:n.-22+5669_-22+5670delinsTA
XM_011521640.1:c.-22+5669_-22+5670delinsTA	XP_011519942.1:n.-22+5669_-22+5670delinsTA
XM_011521640.2:c.-22+5669_-22+5670delinsTA	XP_011519942.1:n.-22+5669_-22+5670delinsTA
NM_000275.3:c.-22+5669_-22+5670delinsTA MANE Select	NP_000266.2:n.-22+5669_-22+5670delinsTA
NM_001300984.2:c.-22+5669_-22+5670delinsTA	NP_001287913.1:n.-22+5669_-22+5670delinsTA