Canonical Allele Identifier: CA267898388
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs374404797

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28093523_28093524insCCC , CM000677.2:g.28093523_28093524insCCC GRCh38
NC_000015.9:g.28338669_28338670insCCC , CM000677.1:g.28338669_28338670insCCC GRCh37
NC_000015.8:g.26012264_26012265insCCC NCBI36
NG_009846.1:g.10790_10791insGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.-22+5701_-22+5702insGGG MANE Select ENSP00000346659.3:n.-22+5701_-22+5702insG...
ENST00000353809.9:c.-22+5701_-22+5702insGGG ENSP00000261276.8:n.-22+5701_-22+5702insG...
ENST00000354638.7:c.-22+5701_-22+5702insGGG ENSP00000346659.3:n.-22+5701_-22+5702insG...
ENST00000431101.1:c.-22+5588_-22+5589insGGG ENSP00000415431.1:n.-22+5588_-22+5589insG...
ENST00000445578.5:c.-22+5701_-22+5702insGGG ENSP00000414425.1:n.-22+5701_-22+5702insG...
NM_000275.2:c.-22+5701_-22+5702insGGG NP_000266.2:n.-22+5701_-22+5702insGGG
NM_001300984.1:c.-22+5701_-22+5702insGGG NP_001287913.1:n.-22+5701_-22+5702insGGG
XM_011521640.1:c.-22+5701_-22+5702insGGG XP_011519942.1:n.-22+5701_-22+5702insGGG
XM_011521640.2:c.-22+5701_-22+5702insGGG XP_011519942.1:n.-22+5701_-22+5702insGGG
NM_000275.3:c.-22+5701_-22+5702insGGG MANE Select NP_000266.2:n.-22+5701_-22+5702insGGG
NM_001300984.2:c.-22+5701_-22+5702insGGG NP_001287913.1:n.-22+5701_-22+5702insGGG