Canonical Allele Identifier: CA2166427489

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28027782_28027783delinsAC , CM000677.2:g.28027782_28027783delinsAC	GRCh38
NC_000015.9:g.28272928_28272929delinsAC , CM000677.1:g.28272928_28272929delinsAC	GRCh37
NC_000015.8:g.25946523_25946524delinsAC	NCBI36
NG_009846.1:g.76530_76531delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.515+88_515+89delinsGT MANE Select	ENSP00000346659.3:n.515+88_515+89delinsGT
ENST00000353809.9:c.515+88_515+89delinsGT	ENSP00000261276.8:n.515+88_515+89delinsGT
ENST00000354638.7:c.515+88_515+89delinsGT	ENSP00000346659.3:n.515+88_515+89delinsGT
ENST00000431101.1:c.515+88_515+89delinsGT	ENSP00000415431.1:n.515+88_515+89delinsGT
ENST00000445578.5:c.515+88_515+89delinsGT	ENSP00000414425.1:n.515+88_515+89delinsGT
NM_000275.2:c.515+88_515+89delinsGT	NP_000266.2:n.515+88_515+89delinsGT
NM_001300984.1:c.515+88_515+89delinsGT	NP_001287913.1:n.515+88_515+89delinsGT
XM_011521639.1:c.539+88_539+89delinsGT	XP_011519941.1:n.539+88_539+89delinsGT
XM_011521640.1:c.515+88_515+89delinsGT	XP_011519942.1:n.515+88_515+89delinsGT
XM_011521641.1:c.539+88_539+89delinsGT	XP_011519943.1:n.539+88_539+89delinsGT
XM_011521642.1:c.539+88_539+89delinsGT	XP_011519944.1:n.539+88_539+89delinsGT
XM_011521643.1:c.539+88_539+89delinsGT	XP_011519945.1:n.539+88_539+89delinsGT
XM_011521644.1:c.539+88_539+89delinsGT	XP_011519946.1:n.539+88_539+89delinsGT
XM_011521645.1:c.539+88_539+89delinsGT	XP_011519947.1:n.539+88_539+89delinsGT
XM_011521646.1:c.539+88_539+89delinsGT	XP_011519948.1:n.539+88_539+89delinsGT
XM_011521647.1:c.539+88_539+89delinsGT	XP_011519949.1:n.539+88_539+89delinsGT
XR_931843.1:n.1900+88_1900+89delinsGT
XM_011521640.2:c.515+88_515+89delinsGT	XP_011519942.1:n.515+88_515+89delinsGT
XM_017022255.1:c.539+88_539+89delinsGT	XP_016877744.1:n.539+88_539+89delinsGT
XM_017022256.1:c.539+88_539+89delinsGT	XP_016877745.1:n.539+88_539+89delinsGT
XM_017022257.1:c.539+88_539+89delinsGT	XP_016877746.1:n.539+88_539+89delinsGT
XM_017022258.1:c.539+88_539+89delinsGT	XP_016877747.1:n.539+88_539+89delinsGT
XM_017022259.1:c.539+88_539+89delinsGT	XP_016877748.1:n.539+88_539+89delinsGT
XM_017022260.1:c.539+88_539+89delinsGT	XP_016877749.1:n.539+88_539+89delinsGT
XM_017022261.1:c.344+88_344+89delinsGT	XP_016877750.1:n.344+88_344+89delinsGT
XM_017022262.1:c.539+88_539+89delinsGT	XP_016877751.1:n.539+88_539+89delinsGT
XM_017022263.1:c.539+88_539+89delinsGT	XP_016877752.1:n.539+88_539+89delinsGT
XM_017022264.1:c.539+88_539+89delinsGT	XP_016877753.1:n.539+88_539+89delinsGT
XM_017022265.1:c.539+88_539+89delinsGT	XP_016877754.1:n.539+88_539+89delinsGT
XR_001751294.1:n.628+88_628+89delinsGT
NM_000275.3:c.515+88_515+89delinsGT MANE Select	NP_000266.2:n.515+88_515+89delinsGT
NM_001300984.2:c.515+88_515+89delinsGT	NP_001287913.1:n.515+88_515+89delinsGT