Canonical Allele Identifier: CA267845311

Gene: OCA2

Linked Data

• dbSNP Id: rs761463260
• gnomAD v2: 15-28096649-C-T
• gnomAD v3: 15-27851503-C-T
• gnomAD v4: 15-27851503-C-T
• MyVariant Identifiers: chr15:g.28096649C>T (hg19) ; chr15:g.27851503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851503C>T , CM000677.2:g.27851503C>T	GRCh38
NC_000015.9:g.28096649C>T , CM000677.1:g.28096649C>T	GRCh37
NC_000015.8:g.25770244C>T	NCBI36
NG_009846.1:g.252810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2245-28G>A MANE Select	ENSP00000346659.3:n.2245-28G>A
ENST00000353809.9:c.2173-28G>A	ENSP00000261276.8:n.2173-28G>A
ENST00000354638.7:c.2245-28G>A	ENSP00000346659.3:n.2245-28G>A
NM_000275.2:c.2245-28G>A	NP_000266.2:n.2245-28G>A
NM_001300984.1:c.2173-28G>A	NP_001287913.1:n.2173-28G>A
XM_011521639.1:c.2311-28G>A	XP_011519941.1:n.2311-28G>A
XM_011521640.1:c.2287-28G>A	XP_011519942.1:n.2287-28G>A
XM_011521641.1:c.2269-28G>A	XP_011519943.1:n.2269-28G>A
XM_011521642.1:c.2239-28G>A	XP_011519944.1:n.2239-28G>A
XM_011521643.1:c.2197-28G>A	XP_011519945.1:n.2197-28G>A
XM_011521644.1:c.2173-28G>A	XP_011519946.1:n.2173-28G>A
XM_011521645.1:c.2104-28G>A	XP_011519947.1:n.2104-28G>A
XM_011521640.2:c.2287-28G>A	XP_011519942.1:n.2287-28G>A
XM_017022255.1:c.2311-28G>A	XP_016877744.1:n.2311-28G>A
XM_017022256.1:c.2269-28G>A	XP_016877745.1:n.2269-28G>A
XM_017022257.1:c.2239-28G>A	XP_016877746.1:n.2239-28G>A
XM_017022258.1:c.2269-28G>A	XP_016877747.1:n.2269-28G>A
XM_017022259.1:c.2197-28G>A	XP_016877748.1:n.2197-28G>A
XM_017022260.1:c.2173-28G>A	XP_016877749.1:n.2173-28G>A
XM_017022261.1:c.2116-28G>A	XP_016877750.1:n.2116-28G>A
XM_017022262.1:c.2268+19651G>A	XP_016877751.1:n.2268+19651G>A
XM_017022263.1:c.2104-28G>A	XP_016877752.1:n.2104-28G>A
XM_017022264.1:c.2104-28G>A	XP_016877753.1:n.2104-28G>A
NM_000275.3:c.2245-28G>A MANE Select	NP_000266.2:n.2245-28G>A
NM_001300984.2:c.2173-28G>A	NP_001287913.1:n.2173-28G>A