Canonical Allele Identifier: CA7438648

Gene: OCA2

Linked Data

• dbSNP Id: rs577826548
• ExAC: 15:28096566 G / A
• gnomAD v2: 15-28096566-G-A
• gnomAD v3: 15-27851420-G-A
• gnomAD v4: 15-27851420-G-A
• MyVariant Identifiers: chr15:g.28096566G>A (hg19) ; chr15:g.27851420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851420G>A , CM000677.2:g.27851420G>A	GRCh38
NC_000015.9:g.28096566G>A , CM000677.1:g.28096566G>A	GRCh37
NC_000015.8:g.25770161G>A	NCBI36
NG_009846.1:g.252893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2300C>T MANE Select	ENSP00000346659.3:p.Pro767Leu
ENST00000353809.9:c.2228C>T	ENSP00000261276.8:p.Pro743Leu
ENST00000354638.7:c.2300C>T	ENSP00000346659.3:p.Pro767Leu
NM_000275.2:c.2300C>T	NP_000266.2:p.Pro767Leu
NM_001300984.1:c.2228C>T	NP_001287913.1:p.Pro743Leu
XM_011521639.1:c.2366C>T	XP_011519941.1:p.Pro789Leu
XM_011521640.1:c.2342C>T	XP_011519942.1:p.Pro781Leu
XM_011521641.1:c.2324C>T	XP_011519943.1:p.Pro775Leu
XM_011521642.1:c.2294C>T	XP_011519944.1:p.Pro765Leu
XM_011521643.1:c.2252C>T	XP_011519945.1:p.Pro751Leu
XM_011521644.1:c.2228C>T	XP_011519946.1:p.Pro743Leu
XM_011521645.1:c.2159C>T	XP_011519947.1:p.Pro720Leu
XM_011521640.2:c.2342C>T	XP_011519942.1:p.Pro781Leu
XM_017022255.1:c.2366C>T	XP_016877744.1:p.Pro789Leu
XM_017022256.1:c.2324C>T	XP_016877745.1:p.Pro775Leu
XM_017022257.1:c.2294C>T	XP_016877746.1:p.Pro765Leu
XM_017022258.1:c.2324C>T	XP_016877747.1:p.Pro775Leu
XM_017022259.1:c.2252C>T	XP_016877748.1:p.Pro751Leu
XM_017022260.1:c.2228C>T	XP_016877749.1:p.Pro743Leu
XM_017022261.1:c.2171C>T	XP_016877750.1:p.Pro724Leu
XM_017022262.1:c.2268+19734C>T	XP_016877751.1:n.2268+19734C>T
XM_017022263.1:c.2159C>T	XP_016877752.1:p.Pro720Leu
XM_017022264.1:c.2159C>T	XP_016877753.1:p.Pro720Leu
NM_000275.3:c.2300C>T MANE Select	NP_000266.2:p.Pro767Leu
NM_001300984.2:c.2228C>T	NP_001287913.1:p.Pro743Leu