Canonical Allele Identifier: CA391359591

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28228577T>G (hg19) ; chr15:g.27983431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983431T>G , CM000677.2:g.27983431T>G	GRCh38
NC_000015.9:g.28228577T>G , CM000677.1:g.28228577T>G	GRCh37
NC_000015.8:g.25902172T>G	NCBI36
NG_009846.1:g.120882A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1417A>C MANE Select	ENSP00000346659.3:p.Ile473Leu
ENST00000353809.9:c.1345A>C	ENSP00000261276.8:p.Ile449Leu
ENST00000354638.7:c.1417A>C	ENSP00000346659.3:p.Ile473Leu
NM_000275.2:c.1417A>C	NP_000266.2:p.Ile473Leu
NM_001300984.1:c.1345A>C	NP_001287913.1:p.Ile449Leu
XM_011521639.1:c.1441A>C	XP_011519941.1:p.Ile481Leu
XM_011521640.1:c.1417A>C	XP_011519942.1:p.Ile473Leu
XM_011521641.1:c.1441A>C	XP_011519943.1:p.Ile481Leu
XM_011521642.1:c.1369A>C	XP_011519944.1:p.Ile457Leu
XM_011521643.1:c.1369A>C	XP_011519945.1:p.Ile457Leu
XM_011521644.1:c.1303A>C	XP_011519946.1:p.Ile435Leu
XM_011521645.1:c.1441A>C	XP_011519947.1:p.Ile481Leu
XM_011521646.1:c.1441A>C	XP_011519948.1:p.Ile481Leu
XM_011521647.1:c.1441A>C	XP_011519949.1:p.Ile481Leu
XR_931843.1:n.2802A>C
XM_011521640.2:c.1417A>C	XP_011519942.1:p.Ile473Leu
XM_017022255.1:c.1441A>C	XP_016877744.1:p.Ile481Leu
XM_017022256.1:c.1441A>C	XP_016877745.1:p.Ile481Leu
XM_017022257.1:c.1369A>C	XP_016877746.1:p.Ile457Leu
XM_017022258.1:c.1441A>C	XP_016877747.1:p.Ile481Leu
XM_017022259.1:c.1369A>C	XP_016877748.1:p.Ile457Leu
XM_017022260.1:c.1303A>C	XP_016877749.1:p.Ile435Leu
XM_017022261.1:c.1246A>C	XP_016877750.1:p.Ile416Leu
XM_017022262.1:c.1441A>C	XP_016877751.1:p.Ile481Leu
XM_017022263.1:c.1441A>C	XP_016877752.1:p.Ile481Leu
XM_017022264.1:c.1441A>C	XP_016877753.1:p.Ile481Leu
XM_017022265.1:c.1441A>C	XP_016877754.1:p.Ile481Leu
XR_001751294.1:n.1530A>C
NM_000275.3:c.1417A>C MANE Select	NP_000266.2:p.Ile473Leu
NM_001300984.2:c.1345A>C	NP_001287913.1:p.Ile449Leu