Canonical Allele Identifier: CA2166452605
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28098905A= , CM000677.2:g.28098905A= GRCh38
NC_000015.9:g.28344051A= , CM000677.1:g.28344051A= GRCh37
NC_000015.8:g.26017646A= NCBI36
NG_009846.1:g.5408T=

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.-22+319T= MANE Select ENSP00000346659.3:n.-22+319T=
ENST00000353809.9:c.-22+319T= ENSP00000261276.8:n.-22+319T=
ENST00000354638.7:c.-22+319T= ENSP00000346659.3:n.-22+319T=
ENST00000431101.1:c.-22+206T= ENSP00000415431.1:n.-22+206T=
ENST00000445578.5:c.-22+319T= ENSP00000414425.1:n.-22+319T=
NM_000275.2:c.-22+319T= NP_000266.2:n.-22+319T=
NM_001300984.1:c.-22+319T= NP_001287913.1:n.-22+319T=
XM_011521640.1:c.-22+319T= XP_011519942.1:n.-22+319T=
XM_011521640.2:c.-22+319T= XP_011519942.1:n.-22+319T=
NM_000275.3:c.-22+319T= MANE Select NP_000266.2:n.-22+319T=
NM_001300984.2:c.-22+319T= NP_001287913.1:n.-22+319T=