Canonical Allele Identifier: CA2166365100
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926245_27926246delinsGC , CM000677.2:g.27926245_27926246delinsGC GRCh38
NC_000015.9:g.28171391_28171392delinsGC , CM000677.1:g.28171391_28171392delinsGC GRCh37
NC_000015.8:g.25844986_25844987delinsGC NCBI36
NG_009846.1:g.178067_178068delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.1960_1961delinsGC MANE Select ENSP00000346659.3:p.Ala654=
ENST00000353809.9:c.1888_1889delinsGC ENSP00000261276.8:p.Ala630=
ENST00000354638.7:c.1960_1961delinsGC ENSP00000346659.3:p.Ala654=
NM_000275.2:c.1960_1961delinsGC NP_000266.2:p.Ala654=
NM_001300984.1:c.1888_1889delinsGC NP_001287913.1:p.Ala630=
XM_011521639.1:c.1984_1985delinsGC XP_011519941.1:p.Ala662=
XM_011521640.1:c.1960_1961delinsGC XP_011519942.1:p.Ala654=
XM_011521641.1:c.1984_1985delinsGC XP_011519943.1:p.Ala662=
XM_011521642.1:c.1912_1913delinsGC XP_011519944.1:p.Ala638=
XM_011521643.1:c.1912_1913delinsGC XP_011519945.1:p.Ala638=
XM_011521644.1:c.1846_1847delinsGC XP_011519946.1:p.Ala616=
XM_011521645.1:c.1984_1985delinsGC XP_011519947.1:p.Ala662=
XM_011521640.2:c.1960_1961delinsGC XP_011519942.1:p.Ala654=
XM_017022255.1:c.1984_1985delinsGC XP_016877744.1:p.Ala662=
XM_017022256.1:c.1984_1985delinsGC XP_016877745.1:p.Ala662=
XM_017022257.1:c.1912_1913delinsGC XP_016877746.1:p.Ala638=
XM_017022258.1:c.1984_1985delinsGC XP_016877747.1:p.Ala662=
XM_017022259.1:c.1912_1913delinsGC XP_016877748.1:p.Ala638=
XM_017022260.1:c.1846_1847delinsGC XP_016877749.1:p.Ala616=
XM_017022261.1:c.1789_1790delinsGC XP_016877750.1:p.Ala597=
XM_017022262.1:c.1984_1985delinsGC XP_016877751.1:p.Ala662=
XM_017022263.1:c.1984_1985delinsGC XP_016877752.1:p.Ala662=
XM_017022264.1:c.1984_1985delinsGC XP_016877753.1:p.Ala662=
NM_000275.3:c.1960_1961delinsGC MANE Select NP_000266.2:p.Ala654=
NM_001300984.2:c.1888_1889delinsGC NP_001287913.1:p.Ala630=