Canonical Allele Identifier: CA488959014

Gene: OCA2

Linked Data

• COSMIC: COSM337408
• MyVariant Identifiers: chr15:g.28096532C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851386C>A , CM000677.2:g.27851386C>A	GRCh38
NC_000015.9:g.28096532C>A , CM000677.1:g.28096532C>A	GRCh37
NC_000015.8:g.25770127C>A	NCBI36
NG_009846.1:g.252927G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2334G>T MANE Select	ENSP00000346659.3:p.Leu778=
ENST00000353809.9:c.2262G>T	ENSP00000261276.8:p.Leu754=
ENST00000354638.7:c.2334G>T	ENSP00000346659.3:p.Leu778=
NM_000275.2:c.2334G>T	NP_000266.2:p.Leu778=
NM_001300984.1:c.2262G>T	NP_001287913.1:p.Leu754=
XM_011521639.1:c.2400G>T	XP_011519941.1:p.Leu800=
XM_011521640.1:c.2376G>T	XP_011519942.1:p.Leu792=
XM_011521641.1:c.2358G>T	XP_011519943.1:p.Leu786=
XM_011521642.1:c.2328G>T	XP_011519944.1:p.Leu776=
XM_011521643.1:c.2286G>T	XP_011519945.1:p.Leu762=
XM_011521644.1:c.2262G>T	XP_011519946.1:p.Leu754=
XM_011521645.1:c.2193G>T	XP_011519947.1:p.Leu731=
XM_011521640.2:c.2376G>T	XP_011519942.1:p.Leu792=
XM_017022255.1:c.2400G>T	XP_016877744.1:p.Leu800=
XM_017022256.1:c.2358G>T	XP_016877745.1:p.Leu786=
XM_017022257.1:c.2328G>T	XP_016877746.1:p.Leu776=
XM_017022258.1:c.2358G>T	XP_016877747.1:p.Leu786=
XM_017022259.1:c.2286G>T	XP_016877748.1:p.Leu762=
XM_017022260.1:c.2262G>T	XP_016877749.1:p.Leu754=
XM_017022261.1:c.2205G>T	XP_016877750.1:p.Leu735=
XM_017022262.1:c.2268+19768G>T	XP_016877751.1:n.2268+19768G>T
XM_017022263.1:c.2193G>T	XP_016877752.1:p.Leu731=
XM_017022264.1:c.2193G>T	XP_016877753.1:p.Leu731=
NM_000275.3:c.2334G>T MANE Select	NP_000266.2:p.Leu778=
NM_001300984.2:c.2262G>T	NP_001287913.1:p.Leu754=