Canonical Allele Identifier: CA2166416444

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27990588_27990597delinsAGCCAGTGCT , CM000677.2:g.27990588_27990597delinsAGCCAGTGCT	GRCh38
NC_000015.9:g.28235734_28235743delinsAGCCAGTGCT , CM000677.1:g.28235734_28235743delinsAGCCAGTGCT	GRCh37
NC_000015.8:g.25909329_25909338delinsAGCCAGTGCT	NCBI36
NG_009846.1:g.113716_113725delinsAGCACTGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1095_1104delinsAGCACTGGCT MANE Select	ENSP00000346659.3:p.Ala365=
ENST00000353809.9:c.1045-931_1045-922delinsAGCACTGGCT	ENSP00000261276.8:n.1045-931_1045-922deli...
ENST00000354638.7:c.1095_1104delinsAGCACTGGCT	ENSP00000346659.3:p.Ala365=
NM_000275.2:c.1095_1104delinsAGCACTGGCT	NP_000266.2:p.Ala365=
NM_001300984.1:c.1045-931_1045-922delinsAGCACTGGCT	NP_001287913.1:n.1045-931_1045-922delinsA...
XM_011521639.1:c.1119_1128delinsAGCACTGGCT	XP_011519941.1:p.Ala373=
XM_011521640.1:c.1095_1104delinsAGCACTGGCT	XP_011519942.1:p.Ala365=
XM_011521641.1:c.1119_1128delinsAGCACTGGCT	XP_011519943.1:p.Ala373=
XM_011521642.1:c.1069-931_1069-922delinsAGCACTGGCT	XP_011519944.1:n.1069-931_1069-922delinsA...
XM_011521643.1:c.1069-931_1069-922delinsAGCACTGGCT	XP_011519945.1:n.1069-931_1069-922delinsA...
XM_011521644.1:c.1069-3954_1069-3945delinsAGCACTGGCT	XP_011519946.1:n.1069-3954_1069-3945delin...
XM_011521645.1:c.1119_1128delinsAGCACTGGCT	XP_011519947.1:p.Ala373=
XM_011521646.1:c.1119_1128delinsAGCACTGGCT	XP_011519948.1:p.Ala373=
XM_011521647.1:c.1119_1128delinsAGCACTGGCT	XP_011519949.1:p.Ala373=
XR_931843.1:n.2480_2489delinsAGCACTGGCT
XM_011521640.2:c.1095_1104delinsAGCACTGGCT	XP_011519942.1:p.Ala365=
XM_017022255.1:c.1119_1128delinsAGCACTGGCT	XP_016877744.1:p.Ala373=
XM_017022256.1:c.1119_1128delinsAGCACTGGCT	XP_016877745.1:p.Ala373=
XM_017022257.1:c.1069-931_1069-922delinsAGCACTGGCT	XP_016877746.1:n.1069-931_1069-922delinsA...
XM_017022258.1:c.1119_1128delinsAGCACTGGCT	XP_016877747.1:p.Ala373=
XM_017022259.1:c.1069-931_1069-922delinsAGCACTGGCT	XP_016877748.1:n.1069-931_1069-922delinsA...
XM_017022260.1:c.1069-3954_1069-3945delinsAGCACTGGCT	XP_016877749.1:n.1069-3954_1069-3945delin...
XM_017022261.1:c.924_933delinsAGCACTGGCT	XP_016877750.1:p.Ala308=
XM_017022262.1:c.1119_1128delinsAGCACTGGCT	XP_016877751.1:p.Ala373=
XM_017022263.1:c.1119_1128delinsAGCACTGGCT	XP_016877752.1:p.Ala373=
XM_017022264.1:c.1119_1128delinsAGCACTGGCT	XP_016877753.1:p.Ala373=
XM_017022265.1:c.1119_1128delinsAGCACTGGCT	XP_016877754.1:p.Ala373=
XR_001751294.1:n.1208_1217delinsAGCACTGGCT
NM_000275.3:c.1095_1104delinsAGCACTGGCT MANE Select	NP_000266.2:p.Ala365=
NM_001300984.2:c.1045-931_1045-922delinsAGCACTGGCT	NP_001287913.1:n.1045-931_1045-922delinsA...