Canonical Allele Identifier: CA267845081
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs755111887

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27851410A>C , CM000677.2:g.27851410A>C GRCh38
NC_000015.9:g.28096556A>C , CM000677.1:g.28096556A>C GRCh37
NC_000015.8:g.25770151A>C NCBI36
NG_009846.1:g.252903T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.2310T>G MANE Select ENSP00000346659.3:p.Tyr770Ter
ENST00000353809.9:c.2238T>G ENSP00000261276.8:p.Tyr746Ter
ENST00000354638.7:c.2310T>G ENSP00000346659.3:p.Tyr770Ter
NM_000275.2:c.2310T>G NP_000266.2:p.Tyr770Ter
NM_001300984.1:c.2238T>G NP_001287913.1:p.Tyr746Ter
XM_011521639.1:c.2376T>G XP_011519941.1:p.Tyr792Ter
XM_011521640.1:c.2352T>G XP_011519942.1:p.Tyr784Ter
XM_011521641.1:c.2334T>G XP_011519943.1:p.Tyr778Ter
XM_011521642.1:c.2304T>G XP_011519944.1:p.Tyr768Ter
XM_011521643.1:c.2262T>G XP_011519945.1:p.Tyr754Ter
XM_011521644.1:c.2238T>G XP_011519946.1:p.Tyr746Ter
XM_011521645.1:c.2169T>G XP_011519947.1:p.Tyr723Ter
XM_011521640.2:c.2352T>G XP_011519942.1:p.Tyr784Ter
XM_017022255.1:c.2376T>G XP_016877744.1:p.Tyr792Ter
XM_017022256.1:c.2334T>G XP_016877745.1:p.Tyr778Ter
XM_017022257.1:c.2304T>G XP_016877746.1:p.Tyr768Ter
XM_017022258.1:c.2334T>G XP_016877747.1:p.Tyr778Ter
XM_017022259.1:c.2262T>G XP_016877748.1:p.Tyr754Ter
XM_017022260.1:c.2238T>G XP_016877749.1:p.Tyr746Ter
XM_017022261.1:c.2181T>G XP_016877750.1:p.Tyr727Ter
XM_017022262.1:c.2268+19744T>G XP_016877751.1:n.2268+19744T>G
XM_017022263.1:c.2169T>G XP_016877752.1:p.Tyr723Ter
XM_017022264.1:c.2169T>G XP_016877753.1:p.Tyr723Ter
NM_000275.3:c.2310T>G MANE Select NP_000266.2:p.Tyr770Ter
NM_001300984.2:c.2238T>G NP_001287913.1:p.Tyr746Ter