Canonical Allele Identifier: CA2166364932
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27925819_27925820delinsGT , CM000677.2:g.27925819_27925820delinsGT GRCh38
NC_000015.9:g.28170965_28170966delinsGT , CM000677.1:g.28170965_28170966delinsGT GRCh37
NC_000015.8:g.25844560_25844561delinsGT NCBI36
NG_009846.1:g.178493_178494delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.2079+307_2079+308delinsAC MANE Select ENSP00000346659.3:n.2079+307_2079+308delinsAC
ENST00000353809.9:c.2007+307_2007+308delinsAC ENSP00000261276.8:n.2007+307_2007+308delinsAC
ENST00000354638.7:c.2079+307_2079+308delinsAC ENSP00000346659.3:n.2079+307_2079+308delinsAC
NM_000275.2:c.2079+307_2079+308delinsAC NP_000266.2:n.2079+307_2079+308delinsAC
NM_001300984.1:c.2007+307_2007+308delinsAC NP_001287913.1:n.2007+307_2007+308delinsAC
XM_011521639.1:c.2103+307_2103+308delinsAC XP_011519941.1:n.2103+307_2103+308delinsAC
XM_011521640.1:c.2079+307_2079+308delinsAC XP_011519942.1:n.2079+307_2079+308delinsAC
XM_011521641.1:c.2103+307_2103+308delinsAC XP_011519943.1:n.2103+307_2103+308delinsAC
XM_011521642.1:c.2031+307_2031+308delinsAC XP_011519944.1:n.2031+307_2031+308delinsAC
XM_011521643.1:c.2031+307_2031+308delinsAC XP_011519945.1:n.2031+307_2031+308delinsAC
XM_011521644.1:c.1965+307_1965+308delinsAC XP_011519946.1:n.1965+307_1965+308delinsAC
XM_011521645.1:c.2103+307_2103+308delinsAC XP_011519947.1:n.2103+307_2103+308delinsAC
XM_011521640.2:c.2079+307_2079+308delinsAC XP_011519942.1:n.2079+307_2079+308delinsAC
XM_017022255.1:c.2103+307_2103+308delinsAC XP_016877744.1:n.2103+307_2103+308delinsAC
XM_017022256.1:c.2103+307_2103+308delinsAC XP_016877745.1:n.2103+307_2103+308delinsAC
XM_017022257.1:c.2031+307_2031+308delinsAC XP_016877746.1:n.2031+307_2031+308delinsAC
XM_017022258.1:c.2103+307_2103+308delinsAC XP_016877747.1:n.2103+307_2103+308delinsAC
XM_017022259.1:c.2031+307_2031+308delinsAC XP_016877748.1:n.2031+307_2031+308delinsAC
XM_017022260.1:c.1965+307_1965+308delinsAC XP_016877749.1:n.1965+307_1965+308delinsAC
XM_017022261.1:c.1908+307_1908+308delinsAC XP_016877750.1:n.1908+307_1908+308delinsAC
XM_017022262.1:c.2103+307_2103+308delinsAC XP_016877751.1:n.2103+307_2103+308delinsAC
XM_017022263.1:c.2103+307_2103+308delinsAC XP_016877752.1:n.2103+307_2103+308delinsAC
XM_017022264.1:c.2103+307_2103+308delinsAC XP_016877753.1:n.2103+307_2103+308delinsAC
NM_000275.3:c.2079+307_2079+308delinsAC MANE Select NP_000266.2:n.2079+307_2079+308delinsAC
NM_001300984.2:c.2007+307_2007+308delinsAC NP_001287913.1:n.2007+307_2007+308delinsAC