Canonical Allele Identifier: CA391359985

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28096551A>C (hg19) ; chr15:g.27851405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851405A>C , CM000677.2:g.27851405A>C	GRCh38
NC_000015.9:g.28096551A>C , CM000677.1:g.28096551A>C	GRCh37
NC_000015.8:g.25770146A>C	NCBI36
NG_009846.1:g.252908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2315T>G MANE Select	ENSP00000346659.3:p.Leu772Arg
ENST00000353809.9:c.2243T>G	ENSP00000261276.8:p.Leu748Arg
ENST00000354638.7:c.2315T>G	ENSP00000346659.3:p.Leu772Arg
NM_000275.2:c.2315T>G	NP_000266.2:p.Leu772Arg
NM_001300984.1:c.2243T>G	NP_001287913.1:p.Leu748Arg
XM_011521639.1:c.2381T>G	XP_011519941.1:p.Leu794Arg
XM_011521640.1:c.2357T>G	XP_011519942.1:p.Leu786Arg
XM_011521641.1:c.2339T>G	XP_011519943.1:p.Leu780Arg
XM_011521642.1:c.2309T>G	XP_011519944.1:p.Leu770Arg
XM_011521643.1:c.2267T>G	XP_011519945.1:p.Leu756Arg
XM_011521644.1:c.2243T>G	XP_011519946.1:p.Leu748Arg
XM_011521645.1:c.2174T>G	XP_011519947.1:p.Leu725Arg
XM_011521640.2:c.2357T>G	XP_011519942.1:p.Leu786Arg
XM_017022255.1:c.2381T>G	XP_016877744.1:p.Leu794Arg
XM_017022256.1:c.2339T>G	XP_016877745.1:p.Leu780Arg
XM_017022257.1:c.2309T>G	XP_016877746.1:p.Leu770Arg
XM_017022258.1:c.2339T>G	XP_016877747.1:p.Leu780Arg
XM_017022259.1:c.2267T>G	XP_016877748.1:p.Leu756Arg
XM_017022260.1:c.2243T>G	XP_016877749.1:p.Leu748Arg
XM_017022261.1:c.2186T>G	XP_016877750.1:p.Leu729Arg
XM_017022262.1:c.2268+19749T>G	XP_016877751.1:n.2268+19749T>G
XM_017022263.1:c.2174T>G	XP_016877752.1:p.Leu725Arg
XM_017022264.1:c.2174T>G	XP_016877753.1:p.Leu725Arg
NM_000275.3:c.2315T>G MANE Select	NP_000266.2:p.Leu772Arg
NM_001300984.2:c.2243T>G	NP_001287913.1:p.Leu748Arg