Canonical Allele Identifier: CA391359580

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2627119
• ClinVar RCV Id: RCV003388313
• gnomAD v4: 15-27983430-A-C
• MyVariant Identifiers: chr15:g.28228576A>C (hg19) ; chr15:g.27983430A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983430A>C , CM000677.2:g.27983430A>C	GRCh38
NC_000015.9:g.28228576A>C , CM000677.1:g.28228576A>C	GRCh37
NC_000015.8:g.25902171A>C	NCBI36
NG_009846.1:g.120883T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1418T>G MANE Select	ENSP00000346659.3:p.Ile473Ser
ENST00000353809.9:c.1346T>G	ENSP00000261276.8:p.Ile449Ser
ENST00000354638.7:c.1418T>G	ENSP00000346659.3:p.Ile473Ser
NM_000275.2:c.1418T>G	NP_000266.2:p.Ile473Ser
NM_001300984.1:c.1346T>G	NP_001287913.1:p.Ile449Ser
XM_011521639.1:c.1442T>G	XP_011519941.1:p.Ile481Ser
XM_011521640.1:c.1418T>G	XP_011519942.1:p.Ile473Ser
XM_011521641.1:c.1442T>G	XP_011519943.1:p.Ile481Ser
XM_011521642.1:c.1370T>G	XP_011519944.1:p.Ile457Ser
XM_011521643.1:c.1370T>G	XP_011519945.1:p.Ile457Ser
XM_011521644.1:c.1304T>G	XP_011519946.1:p.Ile435Ser
XM_011521645.1:c.1442T>G	XP_011519947.1:p.Ile481Ser
XM_011521646.1:c.1442T>G	XP_011519948.1:p.Ile481Ser
XM_011521647.1:c.1442T>G	XP_011519949.1:p.Ile481Ser
XR_931843.1:n.2803T>G
XM_011521640.2:c.1418T>G	XP_011519942.1:p.Ile473Ser
XM_017022255.1:c.1442T>G	XP_016877744.1:p.Ile481Ser
XM_017022256.1:c.1442T>G	XP_016877745.1:p.Ile481Ser
XM_017022257.1:c.1370T>G	XP_016877746.1:p.Ile457Ser
XM_017022258.1:c.1442T>G	XP_016877747.1:p.Ile481Ser
XM_017022259.1:c.1370T>G	XP_016877748.1:p.Ile457Ser
XM_017022260.1:c.1304T>G	XP_016877749.1:p.Ile435Ser
XM_017022261.1:c.1247T>G	XP_016877750.1:p.Ile416Ser
XM_017022262.1:c.1442T>G	XP_016877751.1:p.Ile481Ser
XM_017022263.1:c.1442T>G	XP_016877752.1:p.Ile481Ser
XM_017022264.1:c.1442T>G	XP_016877753.1:p.Ile481Ser
XM_017022265.1:c.1442T>G	XP_016877754.1:p.Ile481Ser
XR_001751294.1:n.1531T>G
NM_000275.3:c.1418T>G MANE Select	NP_000266.2:p.Ile473Ser
NM_001300984.2:c.1346T>G	NP_001287913.1:p.Ile449Ser