Canonical Allele Identifier: CA7438918
Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1252195
dbSNP Id: rs7170989

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27955262T>C , CM000677.2:g.27955262T>C GRCh38
NC_000015.9:g.28200408T>C , CM000677.1:g.28200408T>C GRCh37
NC_000015.8:g.25874003T>C NCBI36
NG_009846.1:g.149051A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.1785-47A>G MANE Select ENSP00000346659.3:n.1785-47A>G
ENST00000353809.9:c.1713-47A>G ENSP00000261276.8:n.1713-47A>G
ENST00000354638.7:c.1785-47A>G ENSP00000346659.3:n.1785-47A>G
NM_000275.2:c.1785-47A>G NP_000266.2:n.1785-47A>G
NM_001300984.1:c.1713-47A>G NP_001287913.1:n.1713-47A>G
XM_011521639.1:c.1809-47A>G XP_011519941.1:n.1809-47A>G
XM_011521640.1:c.1785-47A>G XP_011519942.1:n.1785-47A>G
XM_011521641.1:c.1809-47A>G XP_011519943.1:n.1809-47A>G
XM_011521642.1:c.1737-47A>G XP_011519944.1:n.1737-47A>G
XM_011521643.1:c.1737-47A>G XP_011519945.1:n.1737-47A>G
XM_011521644.1:c.1671-47A>G XP_011519946.1:n.1671-47A>G
XM_011521645.1:c.1809-47A>G XP_011519947.1:n.1809-47A>G
XM_011521646.1:c.1809-47A>G XP_011519948.1:n.1809-47A>G
XM_011521647.1:c.1809-47A>G XP_011519949.1:n.1809-47A>G
XM_011521640.2:c.1785-47A>G XP_011519942.1:n.1785-47A>G
XM_017022255.1:c.1809-47A>G XP_016877744.1:n.1809-47A>G
XM_017022256.1:c.1809-47A>G XP_016877745.1:n.1809-47A>G
XM_017022257.1:c.1737-47A>G XP_016877746.1:n.1737-47A>G
XM_017022258.1:c.1809-47A>G XP_016877747.1:n.1809-47A>G
XM_017022259.1:c.1737-47A>G XP_016877748.1:n.1737-47A>G
XM_017022260.1:c.1671-47A>G XP_016877749.1:n.1671-47A>G
XM_017022261.1:c.1614-47A>G XP_016877750.1:n.1614-47A>G
XM_017022262.1:c.1809-47A>G XP_016877751.1:n.1809-47A>G
XM_017022263.1:c.1809-47A>G XP_016877752.1:n.1809-47A>G
XM_017022264.1:c.1809-47A>G XP_016877753.1:n.1809-47A>G
XM_017022265.1:c.1809-47A>G XP_016877754.1:n.1809-47A>G
NM_000275.3:c.1785-47A>G MANE Select NP_000266.2:n.1785-47A>G
NM_001300984.2:c.1713-47A>G NP_001287913.1:n.1713-47A>G