Canonical Allele Identifier: CA391361340

Gene: OCA2

Linked Data

• ClinVar Variation Id: 1388161
• ClinVar RCV Id: RCV001908306
• dbSNP Id: rs1429912526
• MyVariant Identifiers: chr15:g.28171373C>T (hg19) ; chr15:g.27926227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926227C>T , CM000677.2:g.27926227C>T	GRCh38
NC_000015.9:g.28171373C>T , CM000677.1:g.28171373C>T	GRCh37
NC_000015.8:g.25844968C>T	NCBI36
NG_009846.1:g.178086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1979G>A MANE Select	ENSP00000346659.3:p.Trp660Ter
ENST00000353809.9:c.1907G>A	ENSP00000261276.8:p.Trp636Ter
ENST00000354638.7:c.1979G>A	ENSP00000346659.3:p.Trp660Ter
NM_000275.2:c.1979G>A	NP_000266.2:p.Trp660Ter
NM_001300984.1:c.1907G>A	NP_001287913.1:p.Trp636Ter
XM_011521639.1:c.2003G>A	XP_011519941.1:p.Trp668Ter
XM_011521640.1:c.1979G>A	XP_011519942.1:p.Trp660Ter
XM_011521641.1:c.2003G>A	XP_011519943.1:p.Trp668Ter
XM_011521642.1:c.1931G>A	XP_011519944.1:p.Trp644Ter
XM_011521643.1:c.1931G>A	XP_011519945.1:p.Trp644Ter
XM_011521644.1:c.1865G>A	XP_011519946.1:p.Trp622Ter
XM_011521645.1:c.2003G>A	XP_011519947.1:p.Trp668Ter
XM_011521640.2:c.1979G>A	XP_011519942.1:p.Trp660Ter
XM_017022255.1:c.2003G>A	XP_016877744.1:p.Trp668Ter
XM_017022256.1:c.2003G>A	XP_016877745.1:p.Trp668Ter
XM_017022257.1:c.1931G>A	XP_016877746.1:p.Trp644Ter
XM_017022258.1:c.2003G>A	XP_016877747.1:p.Trp668Ter
XM_017022259.1:c.1931G>A	XP_016877748.1:p.Trp644Ter
XM_017022260.1:c.1865G>A	XP_016877749.1:p.Trp622Ter
XM_017022261.1:c.1808G>A	XP_016877750.1:p.Trp603Ter
XM_017022262.1:c.2003G>A	XP_016877751.1:p.Trp668Ter
XM_017022263.1:c.2003G>A	XP_016877752.1:p.Trp668Ter
XM_017022264.1:c.2003G>A	XP_016877753.1:p.Trp668Ter
NM_000275.3:c.1979G>A MANE Select	NP_000266.2:p.Trp660Ter
NM_001300984.2:c.1907G>A	NP_001287913.1:p.Trp636Ter