Canonical Allele Identifier: CA391360024

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2127437
• ClinVar RCV Id: RCV003047787
• MyVariant Identifiers: chr15:g.28096557T>C (hg19) ; chr15:g.27851411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851411T>C , CM000677.2:g.27851411T>C	GRCh38
NC_000015.9:g.28096557T>C , CM000677.1:g.28096557T>C	GRCh37
NC_000015.8:g.25770152T>C	NCBI36
NG_009846.1:g.252902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2309A>G MANE Select	ENSP00000346659.3:p.Tyr770Cys
ENST00000353809.9:c.2237A>G	ENSP00000261276.8:p.Tyr746Cys
ENST00000354638.7:c.2309A>G	ENSP00000346659.3:p.Tyr770Cys
NM_000275.2:c.2309A>G	NP_000266.2:p.Tyr770Cys
NM_001300984.1:c.2237A>G	NP_001287913.1:p.Tyr746Cys
XM_011521639.1:c.2375A>G	XP_011519941.1:p.Tyr792Cys
XM_011521640.1:c.2351A>G	XP_011519942.1:p.Tyr784Cys
XM_011521641.1:c.2333A>G	XP_011519943.1:p.Tyr778Cys
XM_011521642.1:c.2303A>G	XP_011519944.1:p.Tyr768Cys
XM_011521643.1:c.2261A>G	XP_011519945.1:p.Tyr754Cys
XM_011521644.1:c.2237A>G	XP_011519946.1:p.Tyr746Cys
XM_011521645.1:c.2168A>G	XP_011519947.1:p.Tyr723Cys
XM_011521640.2:c.2351A>G	XP_011519942.1:p.Tyr784Cys
XM_017022255.1:c.2375A>G	XP_016877744.1:p.Tyr792Cys
XM_017022256.1:c.2333A>G	XP_016877745.1:p.Tyr778Cys
XM_017022257.1:c.2303A>G	XP_016877746.1:p.Tyr768Cys
XM_017022258.1:c.2333A>G	XP_016877747.1:p.Tyr778Cys
XM_017022259.1:c.2261A>G	XP_016877748.1:p.Tyr754Cys
XM_017022260.1:c.2237A>G	XP_016877749.1:p.Tyr746Cys
XM_017022261.1:c.2180A>G	XP_016877750.1:p.Tyr727Cys
XM_017022262.1:c.2268+19743A>G	XP_016877751.1:n.2268+19743A>G
XM_017022263.1:c.2168A>G	XP_016877752.1:p.Tyr723Cys
XM_017022264.1:c.2168A>G	XP_016877753.1:p.Tyr723Cys
NM_000275.3:c.2309A>G MANE Select	NP_000266.2:p.Tyr770Cys
NM_001300984.2:c.2237A>G	NP_001287913.1:p.Tyr746Cys