Canonical Allele Identifier: CA14168468
Gene: OCA2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs7174027

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28083619G>A , CM000677.2:g.28083619G>A GRCh38
NC_000015.9:g.28328765G>A , CM000677.1:g.28328765G>A GRCh37
NC_000015.8:g.26002360G>A NCBI36
NG_009846.1:g.20694C>T

Transcript Alleles

HGVS Amino-acid change
NM_000275.2:c.-21-1724C>T VV NP_000266.2:p.=
NM_001300984.1:c.-21-1724C>T VV NP_001287913.1:p.=
XM_011521639.1:c.-591-99C>T XP_011519941.1:p.=
XM_011521640.1:c.-21-1724C>T XP_011519942.1:p.=
XM_011521641.1:c.-591-99C>T XP_011519943.1:p.=
XM_011521642.1:c.-591-99C>T XP_011519944.1:p.=
XM_011521643.1:c.-591-99C>T XP_011519945.1:p.=
XM_011521644.1:c.-591-99C>T XP_011519946.1:p.=
XM_011521645.1:c.-591-99C>T XP_011519947.1:p.=
XM_011521646.1:c.-591-99C>T XP_011519948.1:p.=
XM_011521647.1:c.-591-99C>T XP_011519949.1:p.=
XR_931843.1:n.771-99C>T
XM_011521640.2:c.-21-1724C>T XP_011519942.1:p.=
NM_000275.3:c.-21-1724C>T VV MANE Preferred NP_000266.2:p.=
ENST00000353809.9:c.-21-1724C>T ENSP00000261276.8:p.=
ENST00000354638.7:c.-21-1724C>T ENSP00000346659.3:p.=
ENST00000431101.1:c.-21-1724C>T ENSP00000415431.1:p.=
ENST00000445578.5:c.-21-1724C>T ENSP00000414425.1:p.=