Canonical Allele Identifier: CA267902541
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1000325381

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28098816dup , CM000677.2:g.28098816dup GRCh38
NC_000015.9:g.28343962dup , CM000677.1:g.28343962dup GRCh37
NC_000015.8:g.26017557dup NCBI36
NG_009846.1:g.5500dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-22+411dup MANE Select ENSP00000346659.3:n.-22+411dup
ENST00000353809.9:c.-22+411dup ENSP00000261276.8:n.-22+411dup
ENST00000354638.7:c.-22+411dup ENSP00000346659.3:n.-22+411dup
ENST00000431101.1:c.-22+298dup ENSP00000415431.1:n.-22+298dup
ENST00000445578.5:c.-22+411dup ENSP00000414425.1:n.-22+411dup
NM_000275.2:c.-22+411dup NP_000266.2:n.-22+411dup
NM_001300984.1:c.-22+411dup NP_001287913.1:n.-22+411dup
XM_011521640.1:c.-22+411dup XP_011519942.1:n.-22+411dup
XM_011521640.2:c.-22+411dup XP_011519942.1:n.-22+411dup
NM_000275.3:c.-22+411dup MANE Select NP_000266.2:n.-22+411dup
NM_001300984.2:c.-22+411dup NP_001287913.1:n.-22+411dup