Canonical Allele Identifier: CA2166456438
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28083738C= , CM000677.2:g.28083738C= GRCh38
NC_000015.9:g.28328884C= , CM000677.1:g.28328884C= GRCh37
NC_000015.8:g.26002479C= NCBI36
NG_009846.1:g.20575G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.-21-1843G= MANE Select ENSP00000346659.3:n.-21-1843G=
ENST00000353809.9:c.-21-1843G= ENSP00000261276.8:n.-21-1843G=
ENST00000354638.7:c.-21-1843G= ENSP00000346659.3:n.-21-1843G=
ENST00000431101.1:c.-21-1843G= ENSP00000415431.1:n.-21-1843G=
ENST00000445578.5:c.-21-1843G= ENSP00000414425.1:n.-21-1843G=
NM_000275.2:c.-21-1843G= NP_000266.2:n.-21-1843G=
NM_001300984.1:c.-21-1843G= NP_001287913.1:n.-21-1843G=
XM_011521639.1:c.-591-218G= XP_011519941.1:n.-591-218G=
XM_011521640.1:c.-21-1843G= XP_011519942.1:n.-21-1843G=
XM_011521641.1:c.-591-218G= XP_011519943.1:n.-591-218G=
XM_011521642.1:c.-591-218G= XP_011519944.1:n.-591-218G=
XM_011521643.1:c.-591-218G= XP_011519945.1:n.-591-218G=
XM_011521644.1:c.-591-218G= XP_011519946.1:n.-591-218G=
XM_011521645.1:c.-591-218G= XP_011519947.1:n.-591-218G=
XM_011521646.1:c.-591-218G= XP_011519948.1:n.-591-218G=
XM_011521647.1:c.-591-218G= XP_011519949.1:n.-591-218G=
XR_931843.1:n.771-218G=
XM_011521640.2:c.-21-1843G= XP_011519942.1:n.-21-1843G=
NM_000275.3:c.-21-1843G= MANE Select NP_000266.2:n.-21-1843G=
NM_001300984.2:c.-21-1843G= NP_001287913.1:n.-21-1843G=