Canonical Allele Identifier: CA391360230

Gene: OCA2

Linked Data

• dbSNP Id: rs2035751540
• gnomAD v4: 15-27851462-A-T
• MyVariant Identifiers: chr15:g.28096608A>T (hg19) ; chr15:g.27851462A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851462A>T , CM000677.2:g.27851462A>T	GRCh38
NC_000015.9:g.28096608A>T , CM000677.1:g.28096608A>T	GRCh37
NC_000015.8:g.25770203A>T	NCBI36
NG_009846.1:g.252851T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2258T>A MANE Select	ENSP00000346659.3:p.Leu753Gln
ENST00000353809.9:c.2186T>A	ENSP00000261276.8:p.Leu729Gln
ENST00000354638.7:c.2258T>A	ENSP00000346659.3:p.Leu753Gln
NM_000275.2:c.2258T>A	NP_000266.2:p.Leu753Gln
NM_001300984.1:c.2186T>A	NP_001287913.1:p.Leu729Gln
XM_011521639.1:c.2324T>A	XP_011519941.1:p.Leu775Gln
XM_011521640.1:c.2300T>A	XP_011519942.1:p.Leu767Gln
XM_011521641.1:c.2282T>A	XP_011519943.1:p.Leu761Gln
XM_011521642.1:c.2252T>A	XP_011519944.1:p.Leu751Gln
XM_011521643.1:c.2210T>A	XP_011519945.1:p.Leu737Gln
XM_011521644.1:c.2186T>A	XP_011519946.1:p.Leu729Gln
XM_011521645.1:c.2117T>A	XP_011519947.1:p.Leu706Gln
XM_011521640.2:c.2300T>A	XP_011519942.1:p.Leu767Gln
XM_017022255.1:c.2324T>A	XP_016877744.1:p.Leu775Gln
XM_017022256.1:c.2282T>A	XP_016877745.1:p.Leu761Gln
XM_017022257.1:c.2252T>A	XP_016877746.1:p.Leu751Gln
XM_017022258.1:c.2282T>A	XP_016877747.1:p.Leu761Gln
XM_017022259.1:c.2210T>A	XP_016877748.1:p.Leu737Gln
XM_017022260.1:c.2186T>A	XP_016877749.1:p.Leu729Gln
XM_017022261.1:c.2129T>A	XP_016877750.1:p.Leu710Gln
XM_017022262.1:c.2268+19692T>A	XP_016877751.1:n.2268+19692T>A
XM_017022263.1:c.2117T>A	XP_016877752.1:p.Leu706Gln
XM_017022264.1:c.2117T>A	XP_016877753.1:p.Leu706Gln
NM_000275.3:c.2258T>A MANE Select	NP_000266.2:p.Leu753Gln
NM_001300984.2:c.2186T>A	NP_001287913.1:p.Leu729Gln