Canonical Allele Identifier: CA711756288
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1409524489

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28098781A>G , CM000677.2:g.28098781A>G GRCh38
NC_000015.9:g.28343927A>G , CM000677.1:g.28343927A>G GRCh37
NC_000015.8:g.26017522A>G NCBI36
NG_009846.1:g.5532T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-22+443T>C MANE Select ENSP00000346659.3:n.-22+443T>C
ENST00000353809.9:c.-22+443T>C ENSP00000261276.8:n.-22+443T>C
ENST00000354638.7:c.-22+443T>C ENSP00000346659.3:n.-22+443T>C
ENST00000431101.1:c.-22+330T>C ENSP00000415431.1:n.-22+330T>C
ENST00000445578.5:c.-22+443T>C ENSP00000414425.1:n.-22+443T>C
NM_000275.2:c.-22+443T>C NP_000266.2:n.-22+443T>C
NM_001300984.1:c.-22+443T>C NP_001287913.1:n.-22+443T>C
XM_011521640.1:c.-22+443T>C XP_011519942.1:n.-22+443T>C
XM_011521640.2:c.-22+443T>C XP_011519942.1:n.-22+443T>C
NM_000275.3:c.-22+443T>C MANE Select NP_000266.2:n.-22+443T>C
NM_001300984.2:c.-22+443T>C NP_001287913.1:n.-22+443T>C