Canonical Allele Identifier: CA645591551
Gene: OCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28014907_28014908delinsAA , CM000677.2:g.28014907_28014908delinsAA GRCh38
NC_000015.9:g.28260053_28260054delinsAA , CM000677.1:g.28260053_28260054delinsAA GRCh37
NC_000015.8:g.25933648_25933649delinsAA NCBI36
NG_009846.1:g.89405_89406delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.912_913delinsTT MANE Select ENSP00000346659.3:p.Arg305Trp
ENST00000353809.9:c.912_913delinsTT ENSP00000261276.8:p.Arg305Trp
ENST00000354638.7:c.912_913delinsTT ENSP00000346659.3:p.Arg305Trp
NM_000275.2:c.912_913delinsTT NP_000266.2:p.Arg305Trp
NM_001300984.1:c.912_913delinsTT NP_001287913.1:p.Arg305Trp
XM_011521639.1:c.936_937delinsTT XP_011519941.1:p.Arg313Trp
XM_011521640.1:c.912_913delinsTT XP_011519942.1:p.Arg305Trp
XM_011521641.1:c.936_937delinsTT XP_011519943.1:p.Arg313Trp
XM_011521642.1:c.936_937delinsTT XP_011519944.1:p.Arg313Trp
XM_011521643.1:c.936_937delinsTT XP_011519945.1:p.Arg313Trp
XM_011521644.1:c.936_937delinsTT XP_011519946.1:p.Arg313Trp
XM_011521645.1:c.936_937delinsTT XP_011519947.1:p.Arg313Trp
XM_011521646.1:c.936_937delinsTT XP_011519948.1:p.Arg313Trp
XM_011521647.1:c.936_937delinsTT XP_011519949.1:p.Arg313Trp
XR_931843.1:n.2297_2298delinsTT
XM_011521640.2:c.912_913delinsTT XP_011519942.1:p.Arg305Trp
XM_017022255.1:c.936_937delinsTT XP_016877744.1:p.Arg313Trp
XM_017022256.1:c.936_937delinsTT XP_016877745.1:p.Arg313Trp
XM_017022257.1:c.936_937delinsTT XP_016877746.1:p.Arg313Trp
XM_017022258.1:c.936_937delinsTT XP_016877747.1:p.Arg313Trp
XM_017022259.1:c.936_937delinsTT XP_016877748.1:p.Arg313Trp
XM_017022260.1:c.936_937delinsTT XP_016877749.1:p.Arg313Trp
XM_017022261.1:c.741_742delinsTT XP_016877750.1:p.Arg248Trp
XM_017022262.1:c.936_937delinsTT XP_016877751.1:p.Arg313Trp
XM_017022263.1:c.936_937delinsTT XP_016877752.1:p.Arg313Trp
XM_017022264.1:c.936_937delinsTT XP_016877753.1:p.Arg313Trp
XM_017022265.1:c.936_937delinsTT XP_016877754.1:p.Arg313Trp
XR_001751294.1:n.1025_1026delinsTT
NM_000275.3:c.912_913delinsTT MANE Select NP_000266.2:p.Arg305Trp
NM_001300984.2:c.912_913delinsTT NP_001287913.1:p.Arg305Trp