Canonical Allele Identifier: CA968005490
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2041228624

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27983317_27983325dup , CM000677.2:g.27983317_27983325dup GRCh38
NC_000015.9:g.28228463_28228471dup , CM000677.1:g.28228463_28228471dup GRCh37
NC_000015.8:g.25902058_25902066dup NCBI36
NG_009846.1:g.120988_120996dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.1503+20_1503+28dup MANE Select ENSP00000346659.3:n.1503+20_1503+28dup
ENST00000353809.9:c.1431+20_1431+28dup ENSP00000261276.8:n.1431+20_1431+28dup
ENST00000354638.7:c.1503+20_1503+28dup ENSP00000346659.3:n.1503+20_1503+28dup
NM_000275.2:c.1503+20_1503+28dup NP_000266.2:n.1503+20_1503+28dup
NM_001300984.1:c.1431+20_1431+28dup NP_001287913.1:n.1431+20_1431+28dup
XM_011521639.1:c.1527+20_1527+28dup XP_011519941.1:n.1527+20_1527+28dup
XM_011521640.1:c.1503+20_1503+28dup XP_011519942.1:n.1503+20_1503+28dup
XM_011521641.1:c.1527+20_1527+28dup XP_011519943.1:n.1527+20_1527+28dup
XM_011521642.1:c.1455+20_1455+28dup XP_011519944.1:n.1455+20_1455+28dup
XM_011521643.1:c.1455+20_1455+28dup XP_011519945.1:n.1455+20_1455+28dup
XM_011521644.1:c.1389+20_1389+28dup XP_011519946.1:n.1389+20_1389+28dup
XM_011521645.1:c.1527+20_1527+28dup XP_011519947.1:n.1527+20_1527+28dup
XM_011521646.1:c.1527+20_1527+28dup XP_011519948.1:n.1527+20_1527+28dup
XM_011521647.1:c.1527+20_1527+28dup XP_011519949.1:n.1527+20_1527+28dup
XR_931843.1:n.2888+20_2888+28dup
XM_011521640.2:c.1503+20_1503+28dup XP_011519942.1:n.1503+20_1503+28dup
XM_017022255.1:c.1527+20_1527+28dup XP_016877744.1:n.1527+20_1527+28dup
XM_017022256.1:c.1527+20_1527+28dup XP_016877745.1:n.1527+20_1527+28dup
XM_017022257.1:c.1455+20_1455+28dup XP_016877746.1:n.1455+20_1455+28dup
XM_017022258.1:c.1527+20_1527+28dup XP_016877747.1:n.1527+20_1527+28dup
XM_017022259.1:c.1455+20_1455+28dup XP_016877748.1:n.1455+20_1455+28dup
XM_017022260.1:c.1389+20_1389+28dup XP_016877749.1:n.1389+20_1389+28dup
XM_017022261.1:c.1332+20_1332+28dup XP_016877750.1:n.1332+20_1332+28dup
XM_017022262.1:c.1527+20_1527+28dup XP_016877751.1:n.1527+20_1527+28dup
XM_017022263.1:c.1527+20_1527+28dup XP_016877752.1:n.1527+20_1527+28dup
XM_017022264.1:c.1527+20_1527+28dup XP_016877753.1:n.1527+20_1527+28dup
XM_017022265.1:c.1527+20_1527+28dup XP_016877754.1:n.1527+20_1527+28dup
XR_001751294.1:n.1616+20_1616+28dup
NM_000275.3:c.1503+20_1503+28dup MANE Select NP_000266.2:n.1503+20_1503+28dup
NM_001300984.2:c.1431+20_1431+28dup NP_001287913.1:n.1431+20_1431+28dup