Canonical Allele Identifier: CA7438574

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27844948T>C , CM000677.2:g.27844948T>C	GRCh38
NC_000015.9:g.28090094T>C , CM000677.1:g.28090094T>C	GRCh37
NC_000015.8:g.25763689T>C	NCBI36
NG_009846.1:g.259365A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2432+11A>G MANE Select	NP_000266.2:n.2432+11A>G
ENST00000354638.8:c.2432+11A>G MANE Select	ENSP00000346659.3:n.2432+11A>G
NM_000275.2:c.2432+11A>G	NP_000266.2:n.2432+11A>G
NM_001300984.1:c.2360+11A>G	NP_001287913.1:n.2360+11A>G
NM_001300984.2:c.2360+11A>G	NP_001287913.1:n.2360+11A>G
ENST00000353809.9:c.2360+11A>G	ENSP00000261276.8:n.2360+11A>G
ENST00000354638.7:c.2432+11A>G	ENSP00000346659.3:n.2432+11A>G
XM_011521639.1:c.2498+11A>G	XP_011519941.1:n.2498+11A>G
XM_011521640.1:c.2474+11A>G	XP_011519942.1:n.2474+11A>G
XM_011521640.2:c.2474+11A>G	XP_011519942.1:n.2474+11A>G
XM_011521641.1:c.2456+11A>G	XP_011519943.1:n.2456+11A>G
XM_011521642.1:c.2426+11A>G	XP_011519944.1:n.2426+11A>G
XM_011521643.1:c.2384+11A>G	XP_011519945.1:n.2384+11A>G
XM_011521644.1:c.2360+11A>G	XP_011519946.1:n.2360+11A>G
XM_011521645.1:c.2291+11A>G	XP_011519947.1:n.2291+11A>G
XM_017022255.1:c.2498+11A>G	XP_016877744.1:n.2498+11A>G
XM_017022256.1:c.2456+11A>G	XP_016877745.1:n.2456+11A>G
XM_017022257.1:c.2426+11A>G	XP_016877746.1:n.2426+11A>G
XM_017022258.1:c.2456+11A>G	XP_016877747.1:n.2456+11A>G
XM_017022259.1:c.2384+11A>G	XP_016877748.1:n.2384+11A>G
XM_017022260.1:c.2360+11A>G	XP_016877749.1:n.2360+11A>G
XM_017022261.1:c.2303+11A>G	XP_016877750.1:n.2303+11A>G
XM_017022262.1:c.2268+26206A>G	XP_016877751.1:n.2268+26206A>G
XM_017022263.1:c.2291+11A>G	XP_016877752.1:n.2291+11A>G
XM_017022264.1:c.2291+11A>G	XP_016877753.1:n.2291+11A>G