Canonical Allele Identifier: CA391360137

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28096587T>G (hg19) ; chr15:g.27851441T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851441T>G , CM000677.2:g.27851441T>G	GRCh38
NC_000015.9:g.28096587T>G , CM000677.1:g.28096587T>G	GRCh37
NC_000015.8:g.25770182T>G	NCBI36
NG_009846.1:g.252872A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2279A>C MANE Select	ENSP00000346659.3:p.Glu760Ala
ENST00000353809.9:c.2207A>C	ENSP00000261276.8:p.Glu736Ala
ENST00000354638.7:c.2279A>C	ENSP00000346659.3:p.Glu760Ala
NM_000275.2:c.2279A>C	NP_000266.2:p.Glu760Ala
NM_001300984.1:c.2207A>C	NP_001287913.1:p.Glu736Ala
XM_011521639.1:c.2345A>C	XP_011519941.1:p.Glu782Ala
XM_011521640.1:c.2321A>C	XP_011519942.1:p.Glu774Ala
XM_011521641.1:c.2303A>C	XP_011519943.1:p.Glu768Ala
XM_011521642.1:c.2273A>C	XP_011519944.1:p.Glu758Ala
XM_011521643.1:c.2231A>C	XP_011519945.1:p.Glu744Ala
XM_011521644.1:c.2207A>C	XP_011519946.1:p.Glu736Ala
XM_011521645.1:c.2138A>C	XP_011519947.1:p.Glu713Ala
XM_011521640.2:c.2321A>C	XP_011519942.1:p.Glu774Ala
XM_017022255.1:c.2345A>C	XP_016877744.1:p.Glu782Ala
XM_017022256.1:c.2303A>C	XP_016877745.1:p.Glu768Ala
XM_017022257.1:c.2273A>C	XP_016877746.1:p.Glu758Ala
XM_017022258.1:c.2303A>C	XP_016877747.1:p.Glu768Ala
XM_017022259.1:c.2231A>C	XP_016877748.1:p.Glu744Ala
XM_017022260.1:c.2207A>C	XP_016877749.1:p.Glu736Ala
XM_017022261.1:c.2150A>C	XP_016877750.1:p.Glu717Ala
XM_017022262.1:c.2268+19713A>C	XP_016877751.1:n.2268+19713A>C
XM_017022263.1:c.2138A>C	XP_016877752.1:p.Glu713Ala
XM_017022264.1:c.2138A>C	XP_016877753.1:p.Glu713Ala
NM_000275.3:c.2279A>C MANE Select	NP_000266.2:p.Glu760Ala
NM_001300984.2:c.2207A>C	NP_001287913.1:p.Glu736Ala