Canonical Allele Identifier: CA7438663

Gene: OCA2

Linked Data

• ClinVar Variation Id: 1655617
• ClinVar RCV Id: RCV002159061
• dbSNP Id: rs148894313
• ExAC: 15:28096595 G / A
• gnomAD v2: 15-28096595-G-A
• gnomAD v3: 15-27851449-G-A
• gnomAD v4: 15-27851449-G-A
• COSMIC: COSM3420213
• MyVariant Identifiers: chr15:g.28096595G>A (hg19) ; chr15:g.27851449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851449G>A , CM000677.2:g.27851449G>A	GRCh38
NC_000015.9:g.28096595G>A , CM000677.1:g.28096595G>A	GRCh37
NC_000015.8:g.25770190G>A	NCBI36
NG_009846.1:g.252864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2271C>T MANE Select	ENSP00000346659.3:p.His757=
ENST00000353809.9:c.2199C>T	ENSP00000261276.8:p.His733=
ENST00000354638.7:c.2271C>T	ENSP00000346659.3:p.His757=
NM_000275.2:c.2271C>T	NP_000266.2:p.His757=
NM_001300984.1:c.2199C>T	NP_001287913.1:p.His733=
XM_011521639.1:c.2337C>T	XP_011519941.1:p.His779=
XM_011521640.1:c.2313C>T	XP_011519942.1:p.His771=
XM_011521641.1:c.2295C>T	XP_011519943.1:p.His765=
XM_011521642.1:c.2265C>T	XP_011519944.1:p.His755=
XM_011521643.1:c.2223C>T	XP_011519945.1:p.His741=
XM_011521644.1:c.2199C>T	XP_011519946.1:p.His733=
XM_011521645.1:c.2130C>T	XP_011519947.1:p.His710=
XM_011521640.2:c.2313C>T	XP_011519942.1:p.His771=
XM_017022255.1:c.2337C>T	XP_016877744.1:p.His779=
XM_017022256.1:c.2295C>T	XP_016877745.1:p.His765=
XM_017022257.1:c.2265C>T	XP_016877746.1:p.His755=
XM_017022258.1:c.2295C>T	XP_016877747.1:p.His765=
XM_017022259.1:c.2223C>T	XP_016877748.1:p.His741=
XM_017022260.1:c.2199C>T	XP_016877749.1:p.His733=
XM_017022261.1:c.2142C>T	XP_016877750.1:p.His714=
XM_017022262.1:c.2268+19705C>T	XP_016877751.1:n.2268+19705C>T
XM_017022263.1:c.2130C>T	XP_016877752.1:p.His710=
XM_017022264.1:c.2130C>T	XP_016877753.1:p.His710=
NM_000275.3:c.2271C>T MANE Select	NP_000266.2:p.His757=
NM_001300984.2:c.2199C>T	NP_001287913.1:p.His733=