Canonical Allele Identifier: CA2166456488
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28083765A= , CM000677.2:g.28083765A= GRCh38
NC_000015.9:g.28328911A= , CM000677.1:g.28328911A= GRCh37
NC_000015.8:g.26002506A= NCBI36
NG_009846.1:g.20548T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-21-1870T= MANE Select ENSP00000346659.3:n.-21-1870T=
ENST00000353809.9:c.-21-1870T= ENSP00000261276.8:n.-21-1870T=
ENST00000354638.7:c.-21-1870T= ENSP00000346659.3:n.-21-1870T=
ENST00000431101.1:c.-21-1870T= ENSP00000415431.1:n.-21-1870T=
ENST00000445578.5:c.-21-1870T= ENSP00000414425.1:n.-21-1870T=
NM_000275.2:c.-21-1870T= NP_000266.2:n.-21-1870T=
NM_001300984.1:c.-21-1870T= NP_001287913.1:n.-21-1870T=
XM_011521639.1:c.-591-245T= XP_011519941.1:n.-591-245T=
XM_011521640.1:c.-21-1870T= XP_011519942.1:n.-21-1870T=
XM_011521641.1:c.-591-245T= XP_011519943.1:n.-591-245T=
XM_011521642.1:c.-591-245T= XP_011519944.1:n.-591-245T=
XM_011521643.1:c.-591-245T= XP_011519945.1:n.-591-245T=
XM_011521644.1:c.-591-245T= XP_011519946.1:n.-591-245T=
XM_011521645.1:c.-591-245T= XP_011519947.1:n.-591-245T=
XM_011521646.1:c.-591-245T= XP_011519948.1:n.-591-245T=
XM_011521647.1:c.-591-245T= XP_011519949.1:n.-591-245T=
XR_931843.1:n.771-245T=
XM_011521640.2:c.-21-1870T= XP_011519942.1:n.-21-1870T=
NM_000275.3:c.-21-1870T= MANE Select NP_000266.2:n.-21-1870T=
NM_001300984.2:c.-21-1870T= NP_001287913.1:n.-21-1870T=