Canonical Allele Identifier: CA7439489
Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3203919
ClinVar RCV Id: RCV004496736
dbSNP Id: rs758157709

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28027905T>C , CM000677.2:g.28027905T>C GRCh38
NC_000015.9:g.28273051T>C , CM000677.1:g.28273051T>C GRCh37
NC_000015.8:g.25946646T>C NCBI36
NG_009846.1:g.76408A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.481A>G MANE Select ENSP00000346659.3:p.Ser161Gly
ENST00000353809.9:c.481A>G ENSP00000261276.8:p.Ser161Gly
ENST00000354638.7:c.481A>G ENSP00000346659.3:p.Ser161Gly
ENST00000431101.1:c.481A>G ENSP00000415431.1:p.Ser161Gly
ENST00000445578.5:c.481A>G ENSP00000414425.1:p.Ser161Gly
NM_000275.2:c.481A>G NP_000266.2:p.Ser161Gly
NM_001300984.1:c.481A>G NP_001287913.1:p.Ser161Gly
XM_011521639.1:c.505A>G XP_011519941.1:p.Ser169Gly
XM_011521640.1:c.481A>G XP_011519942.1:p.Ser161Gly
XM_011521641.1:c.505A>G XP_011519943.1:p.Ser169Gly
XM_011521642.1:c.505A>G XP_011519944.1:p.Ser169Gly
XM_011521643.1:c.505A>G XP_011519945.1:p.Ser169Gly
XM_011521644.1:c.505A>G XP_011519946.1:p.Ser169Gly
XM_011521645.1:c.505A>G XP_011519947.1:p.Ser169Gly
XM_011521646.1:c.505A>G XP_011519948.1:p.Ser169Gly
XM_011521647.1:c.505A>G XP_011519949.1:p.Ser169Gly
XR_931843.1:n.1866A>G
XM_011521640.2:c.481A>G XP_011519942.1:p.Ser161Gly
XM_017022255.1:c.505A>G XP_016877744.1:p.Ser169Gly
XM_017022256.1:c.505A>G XP_016877745.1:p.Ser169Gly
XM_017022257.1:c.505A>G XP_016877746.1:p.Ser169Gly
XM_017022258.1:c.505A>G XP_016877747.1:p.Ser169Gly
XM_017022259.1:c.505A>G XP_016877748.1:p.Ser169Gly
XM_017022260.1:c.505A>G XP_016877749.1:p.Ser169Gly
XM_017022261.1:c.310A>G XP_016877750.1:p.Ser104Gly
XM_017022262.1:c.505A>G XP_016877751.1:p.Ser169Gly
XM_017022263.1:c.505A>G XP_016877752.1:p.Ser169Gly
XM_017022264.1:c.505A>G XP_016877753.1:p.Ser169Gly
XM_017022265.1:c.505A>G XP_016877754.1:p.Ser169Gly
XR_001751294.1:n.594A>G
NM_000275.3:c.481A>G MANE Select NP_000266.2:p.Ser161Gly
NM_001300984.2:c.481A>G NP_001287913.1:p.Ser161Gly