Canonical Allele Identifier: CA15854021
Gene: OCA2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4778138

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28090674A>G , CM000677.2:g.28090674A>G GRCh38
NC_000015.9:g.28335820A>G , CM000677.1:g.28335820A>G GRCh37
NC_000015.8:g.26009415A>G NCBI36
NG_009846.1:g.13639T>C

Transcript Alleles

HGVS Amino-acid change
NM_000275.2:c.-22+8550T>C VV NP_000266.2:p.=
NM_001300984.1:c.-22+8550T>C VV NP_001287913.1:p.=
XM_011521640.1:c.-22+8550T>C XP_011519942.1:p.=
XM_011521640.2:c.-22+8550T>C XP_011519942.1:p.=
NM_000275.3:c.-22+8550T>C VV MANE Preferred NP_000266.2:p.=
ENST00000353809.9:c.-22+8550T>C ENSP00000261276.8:p.=
ENST00000354638.7:c.-22+8550T>C ENSP00000346659.3:p.=
ENST00000431101.1:c.-22+8437T>C ENSP00000415431.1:p.=
ENST00000445578.5:c.-22+8550T>C ENSP00000414425.1:p.=