Canonical Allele Identifier: CA391360268

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28096618G>T (hg19) ; chr15:g.27851472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851472G>T , CM000677.2:g.27851472G>T	GRCh38
NC_000015.9:g.28096618G>T , CM000677.1:g.28096618G>T	GRCh37
NC_000015.8:g.25770213G>T	NCBI36
NG_009846.1:g.252841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2248C>A MANE Select	ENSP00000346659.3:p.Pro750Thr
ENST00000353809.9:c.2176C>A	ENSP00000261276.8:p.Pro726Thr
ENST00000354638.7:c.2248C>A	ENSP00000346659.3:p.Pro750Thr
NM_000275.2:c.2248C>A	NP_000266.2:p.Pro750Thr
NM_001300984.1:c.2176C>A	NP_001287913.1:p.Pro726Thr
XM_011521639.1:c.2314C>A	XP_011519941.1:p.Pro772Thr
XM_011521640.1:c.2290C>A	XP_011519942.1:p.Pro764Thr
XM_011521641.1:c.2272C>A	XP_011519943.1:p.Pro758Thr
XM_011521642.1:c.2242C>A	XP_011519944.1:p.Pro748Thr
XM_011521643.1:c.2200C>A	XP_011519945.1:p.Pro734Thr
XM_011521644.1:c.2176C>A	XP_011519946.1:p.Pro726Thr
XM_011521645.1:c.2107C>A	XP_011519947.1:p.Pro703Thr
XM_011521640.2:c.2290C>A	XP_011519942.1:p.Pro764Thr
XM_017022255.1:c.2314C>A	XP_016877744.1:p.Pro772Thr
XM_017022256.1:c.2272C>A	XP_016877745.1:p.Pro758Thr
XM_017022257.1:c.2242C>A	XP_016877746.1:p.Pro748Thr
XM_017022258.1:c.2272C>A	XP_016877747.1:p.Pro758Thr
XM_017022259.1:c.2200C>A	XP_016877748.1:p.Pro734Thr
XM_017022260.1:c.2176C>A	XP_016877749.1:p.Pro726Thr
XM_017022261.1:c.2119C>A	XP_016877750.1:p.Pro707Thr
XM_017022262.1:c.2268+19682C>A	XP_016877751.1:n.2268+19682C>A
XM_017022263.1:c.2107C>A	XP_016877752.1:p.Pro703Thr
XM_017022264.1:c.2107C>A	XP_016877753.1:p.Pro703Thr
NM_000275.3:c.2248C>A MANE Select	NP_000266.2:p.Pro750Thr
NM_001300984.2:c.2176C>A	NP_001287913.1:p.Pro726Thr