Canonical Allele Identifier: CA391359832

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28096531C>A (hg19) ; chr15:g.27851385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851385C>A , CM000677.2:g.27851385C>A	GRCh38
NC_000015.9:g.28096531C>A , CM000677.1:g.28096531C>A	GRCh37
NC_000015.8:g.25770126C>A	NCBI36
NG_009846.1:g.252928G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2335G>T MANE Select	ENSP00000346659.3:p.Gly779Ter
ENST00000353809.9:c.2263G>T	ENSP00000261276.8:p.Gly755Ter
ENST00000354638.7:c.2335G>T	ENSP00000346659.3:p.Gly779Ter
NM_000275.2:c.2335G>T	NP_000266.2:p.Gly779Ter
NM_001300984.1:c.2263G>T	NP_001287913.1:p.Gly755Ter
XM_011521639.1:c.2401G>T	XP_011519941.1:p.Gly801Ter
XM_011521640.1:c.2377G>T	XP_011519942.1:p.Gly793Ter
XM_011521641.1:c.2359G>T	XP_011519943.1:p.Gly787Ter
XM_011521642.1:c.2329G>T	XP_011519944.1:p.Gly777Ter
XM_011521643.1:c.2287G>T	XP_011519945.1:p.Gly763Ter
XM_011521644.1:c.2263G>T	XP_011519946.1:p.Gly755Ter
XM_011521645.1:c.2194G>T	XP_011519947.1:p.Gly732Ter
XM_011521640.2:c.2377G>T	XP_011519942.1:p.Gly793Ter
XM_017022255.1:c.2401G>T	XP_016877744.1:p.Gly801Ter
XM_017022256.1:c.2359G>T	XP_016877745.1:p.Gly787Ter
XM_017022257.1:c.2329G>T	XP_016877746.1:p.Gly777Ter
XM_017022258.1:c.2359G>T	XP_016877747.1:p.Gly787Ter
XM_017022259.1:c.2287G>T	XP_016877748.1:p.Gly763Ter
XM_017022260.1:c.2263G>T	XP_016877749.1:p.Gly755Ter
XM_017022261.1:c.2206G>T	XP_016877750.1:p.Gly736Ter
XM_017022262.1:c.2268+19769G>T	XP_016877751.1:n.2268+19769G>T
XM_017022263.1:c.2194G>T	XP_016877752.1:p.Gly732Ter
XM_017022264.1:c.2194G>T	XP_016877753.1:p.Gly732Ter
NM_000275.3:c.2335G>T MANE Select	NP_000266.2:p.Gly779Ter
NM_001300984.2:c.2263G>T	NP_001287913.1:p.Gly755Ter