Canonical Allele Identifier: CA2503806045

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28098842_28098843insCACAATGTT , CM000677.2:g.28098842_28098843insCACAATGTT	GRCh38
NC_000015.9:g.28343988_28343989insCACAATGTT , CM000677.1:g.28343988_28343989insCACAATGTT	GRCh37
NC_000015.8:g.26017583_26017584insCACAATGTT	NCBI36
NG_009846.1:g.5470_5471insAACATTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+381_-22+382insAACATTGTG MANE Select	ENSP00000346659.3:n.-22+381_-22+382insAACATTGTG
ENST00000353809.9:c.-22+381_-22+382insAACATTGTG	ENSP00000261276.8:n.-22+381_-22+382insAACATTGTG
ENST00000354638.7:c.-22+381_-22+382insAACATTGTG	ENSP00000346659.3:n.-22+381_-22+382insAACATTGTG
ENST00000431101.1:c.-22+268_-22+269insAACATTGTG	ENSP00000415431.1:n.-22+268_-22+269insAACATTGTG
ENST00000445578.5:c.-22+381_-22+382insAACATTGTG	ENSP00000414425.1:n.-22+381_-22+382insAACATTGTG
NM_000275.2:c.-22+381_-22+382insAACATTGTG	NP_000266.2:n.-22+381_-22+382insAACATTGTG
NM_001300984.1:c.-22+381_-22+382insAACATTGTG	NP_001287913.1:n.-22+381_-22+382insAACATTGTG
XM_011521640.1:c.-22+381_-22+382insAACATTGTG	XP_011519942.1:n.-22+381_-22+382insAACATTGTG
XM_011521640.2:c.-22+381_-22+382insAACATTGTG	XP_011519942.1:n.-22+381_-22+382insAACATTGTG
NM_000275.3:c.-22+381_-22+382insAACATTGTG MANE Select	NP_000266.2:n.-22+381_-22+382insAACATTGTG
NM_001300984.2:c.-22+381_-22+382insAACATTGTG	NP_001287913.1:n.-22+381_-22+382insAACATTGTG