Canonical Allele Identifier: CA616700827
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1362878328

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28098783T>A , CM000677.2:g.28098783T>A GRCh38
NC_000015.9:g.28343929T>A , CM000677.1:g.28343929T>A GRCh37
NC_000015.8:g.26017524T>A NCBI36
NG_009846.1:g.5530A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-22+441A>T MANE Select ENSP00000346659.3:n.-22+441A>T
ENST00000353809.9:c.-22+441A>T ENSP00000261276.8:n.-22+441A>T
ENST00000354638.7:c.-22+441A>T ENSP00000346659.3:n.-22+441A>T
ENST00000431101.1:c.-22+328A>T ENSP00000415431.1:n.-22+328A>T
ENST00000445578.5:c.-22+441A>T ENSP00000414425.1:n.-22+441A>T
NM_000275.2:c.-22+441A>T NP_000266.2:n.-22+441A>T
NM_001300984.1:c.-22+441A>T NP_001287913.1:n.-22+441A>T
XM_011521640.1:c.-22+441A>T XP_011519942.1:n.-22+441A>T
XM_011521640.2:c.-22+441A>T XP_011519942.1:n.-22+441A>T
NM_000275.3:c.-22+441A>T MANE Select NP_000266.2:n.-22+441A>T
NM_001300984.2:c.-22+441A>T NP_001287913.1:n.-22+441A>T