Canonical Allele Identifier: CA391359857

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28096536C>A (hg19) ; chr15:g.27851390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851390C>A , CM000677.2:g.27851390C>A	GRCh38
NC_000015.9:g.28096536C>A , CM000677.1:g.28096536C>A	GRCh37
NC_000015.8:g.25770131C>A	NCBI36
NG_009846.1:g.252923G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2330G>T MANE Select	ENSP00000346659.3:p.Cys777Phe
ENST00000353809.9:c.2258G>T	ENSP00000261276.8:p.Cys753Phe
ENST00000354638.7:c.2330G>T	ENSP00000346659.3:p.Cys777Phe
NM_000275.2:c.2330G>T	NP_000266.2:p.Cys777Phe
NM_001300984.1:c.2258G>T	NP_001287913.1:p.Cys753Phe
XM_011521639.1:c.2396G>T	XP_011519941.1:p.Cys799Phe
XM_011521640.1:c.2372G>T	XP_011519942.1:p.Cys791Phe
XM_011521641.1:c.2354G>T	XP_011519943.1:p.Cys785Phe
XM_011521642.1:c.2324G>T	XP_011519944.1:p.Cys775Phe
XM_011521643.1:c.2282G>T	XP_011519945.1:p.Cys761Phe
XM_011521644.1:c.2258G>T	XP_011519946.1:p.Cys753Phe
XM_011521645.1:c.2189G>T	XP_011519947.1:p.Cys730Phe
XM_011521640.2:c.2372G>T	XP_011519942.1:p.Cys791Phe
XM_017022255.1:c.2396G>T	XP_016877744.1:p.Cys799Phe
XM_017022256.1:c.2354G>T	XP_016877745.1:p.Cys785Phe
XM_017022257.1:c.2324G>T	XP_016877746.1:p.Cys775Phe
XM_017022258.1:c.2354G>T	XP_016877747.1:p.Cys785Phe
XM_017022259.1:c.2282G>T	XP_016877748.1:p.Cys761Phe
XM_017022260.1:c.2258G>T	XP_016877749.1:p.Cys753Phe
XM_017022261.1:c.2201G>T	XP_016877750.1:p.Cys734Phe
XM_017022262.1:c.2268+19764G>T	XP_016877751.1:n.2268+19764G>T
XM_017022263.1:c.2189G>T	XP_016877752.1:p.Cys730Phe
XM_017022264.1:c.2189G>T	XP_016877753.1:p.Cys730Phe
NM_000275.3:c.2330G>T MANE Select	NP_000266.2:p.Cys777Phe
NM_001300984.2:c.2258G>T	NP_001287913.1:p.Cys753Phe