Canonical Allele Identifier: CA2166468429

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093433_28093434delinsGA , CM000677.2:g.28093433_28093434delinsGA	GRCh38
NC_000015.9:g.28338579_28338580delinsGA , CM000677.1:g.28338579_28338580delinsGA	GRCh37
NC_000015.8:g.26012174_26012175delinsGA	NCBI36
NG_009846.1:g.10879_10880delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5790_-22+5791delinsTC MANE Select	ENSP00000346659.3:n.-22+5790_-22+5791delinsTC
ENST00000353809.9:c.-22+5790_-22+5791delinsTC	ENSP00000261276.8:n.-22+5790_-22+5791delinsTC
ENST00000354638.7:c.-22+5790_-22+5791delinsTC	ENSP00000346659.3:n.-22+5790_-22+5791delinsTC
ENST00000431101.1:c.-22+5677_-22+5678delinsTC	ENSP00000415431.1:n.-22+5677_-22+5678delinsTC
ENST00000445578.5:c.-22+5790_-22+5791delinsTC	ENSP00000414425.1:n.-22+5790_-22+5791delinsTC
NM_000275.2:c.-22+5790_-22+5791delinsTC	NP_000266.2:n.-22+5790_-22+5791delinsTC
NM_001300984.1:c.-22+5790_-22+5791delinsTC	NP_001287913.1:n.-22+5790_-22+5791delinsTC
XM_011521640.1:c.-22+5790_-22+5791delinsTC	XP_011519942.1:n.-22+5790_-22+5791delinsTC
XM_011521640.2:c.-22+5790_-22+5791delinsTC	XP_011519942.1:n.-22+5790_-22+5791delinsTC
NM_000275.3:c.-22+5790_-22+5791delinsTC MANE Select	NP_000266.2:n.-22+5790_-22+5791delinsTC
NM_001300984.2:c.-22+5790_-22+5791delinsTC	NP_001287913.1:n.-22+5790_-22+5791delinsTC