Canonical Allele Identifier: CA2803504120
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926346_27926350del , CM000677.2:g.27926346_27926350del GRCh38
NC_000015.9:g.28171492_28171496del , CM000677.1:g.28171492_28171496del GRCh37
NC_000015.8:g.25845087_25845091del NCBI36
NG_009846.1:g.177964_177968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.1952-95_1952-91del MANE Select ENSP00000346659.3:n.1952-95_1952-91del
ENST00000353809.9:c.1880-95_1880-91del ENSP00000261276.8:n.1880-95_1880-91del
ENST00000354638.7:c.1952-95_1952-91del ENSP00000346659.3:n.1952-95_1952-91del
NM_000275.2:c.1952-95_1952-91del NP_000266.2:n.1952-95_1952-91del
NM_001300984.1:c.1880-95_1880-91del NP_001287913.1:n.1880-95_1880-91del
XM_011521639.1:c.1976-95_1976-91del XP_011519941.1:n.1976-95_1976-91del
XM_011521640.1:c.1952-95_1952-91del XP_011519942.1:n.1952-95_1952-91del
XM_011521641.1:c.1976-95_1976-91del XP_011519943.1:n.1976-95_1976-91del
XM_011521642.1:c.1904-95_1904-91del XP_011519944.1:n.1904-95_1904-91del
XM_011521643.1:c.1904-95_1904-91del XP_011519945.1:n.1904-95_1904-91del
XM_011521644.1:c.1838-95_1838-91del XP_011519946.1:n.1838-95_1838-91del
XM_011521645.1:c.1976-95_1976-91del XP_011519947.1:n.1976-95_1976-91del
XM_011521640.2:c.1952-95_1952-91del XP_011519942.1:n.1952-95_1952-91del
XM_017022255.1:c.1976-95_1976-91del XP_016877744.1:n.1976-95_1976-91del
XM_017022256.1:c.1976-95_1976-91del XP_016877745.1:n.1976-95_1976-91del
XM_017022257.1:c.1904-95_1904-91del XP_016877746.1:n.1904-95_1904-91del
XM_017022258.1:c.1976-95_1976-91del XP_016877747.1:n.1976-95_1976-91del
XM_017022259.1:c.1904-95_1904-91del XP_016877748.1:n.1904-95_1904-91del
XM_017022260.1:c.1838-95_1838-91del XP_016877749.1:n.1838-95_1838-91del
XM_017022261.1:c.1781-95_1781-91del XP_016877750.1:n.1781-95_1781-91del
XM_017022262.1:c.1976-95_1976-91del XP_016877751.1:n.1976-95_1976-91del
XM_017022263.1:c.1976-95_1976-91del XP_016877752.1:n.1976-95_1976-91del
XM_017022264.1:c.1976-95_1976-91del XP_016877753.1:n.1976-95_1976-91del
NM_000275.3:c.1952-95_1952-91del MANE Select NP_000266.2:n.1952-95_1952-91del
NM_001300984.2:c.1880-95_1880-91del NP_001287913.1:n.1880-95_1880-91del