Canonical Allele Identifier: CA14192655
Gene: OCA2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4778241

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28093567A>C , CM000677.2:g.28093567A>C GRCh38
NC_000015.9:g.28338713A>C , CM000677.1:g.28338713A>C GRCh37
NC_000015.8:g.26012308A>C NCBI36
NG_009846.1:g.10746T>G

Transcript Alleles

HGVS Amino-acid change
NM_000275.2:c.-22+5657T>G VV NP_000266.2:p.=
NM_001300984.1:c.-22+5657T>G VV NP_001287913.1:p.=
XM_011521640.1:c.-22+5657T>G XP_011519942.1:p.=
XM_011521640.2:c.-22+5657T>G XP_011519942.1:p.=
NM_000275.3:c.-22+5657T>G VV MANE Preferred NP_000266.2:p.=
ENST00000353809.9:c.-22+5657T>G ENSP00000261276.8:p.=
ENST00000354638.7:c.-22+5657T>G ENSP00000346659.3:p.=
ENST00000431101.1:c.-22+5544T>G ENSP00000415431.1:p.=
ENST00000445578.5:c.-22+5657T>G ENSP00000414425.1:p.=