Canonical Allele Identifier: CA2803505836

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983527_27983530del , CM000677.2:g.27983527_27983530del	GRCh38
NC_000015.9:g.28228673_28228676del , CM000677.1:g.28228673_28228676del	GRCh37
NC_000015.8:g.25902268_25902271del	NCBI36
NG_009846.1:g.120783_120786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1365-47_1365-44del MANE Select	ENSP00000346659.3:n.1365-47_1365-44del
ENST00000353809.9:c.1293-47_1293-44del	ENSP00000261276.8:n.1293-47_1293-44del
ENST00000354638.7:c.1365-47_1365-44del	ENSP00000346659.3:n.1365-47_1365-44del
NM_000275.2:c.1365-47_1365-44del	NP_000266.2:n.1365-47_1365-44del
NM_001300984.1:c.1293-47_1293-44del	NP_001287913.1:n.1293-47_1293-44del
XM_011521639.1:c.1389-47_1389-44del	XP_011519941.1:n.1389-47_1389-44del
XM_011521640.1:c.1365-47_1365-44del	XP_011519942.1:n.1365-47_1365-44del
XM_011521641.1:c.1389-47_1389-44del	XP_011519943.1:n.1389-47_1389-44del
XM_011521642.1:c.1317-47_1317-44del	XP_011519944.1:n.1317-47_1317-44del
XM_011521643.1:c.1317-47_1317-44del	XP_011519945.1:n.1317-47_1317-44del
XM_011521644.1:c.1251-47_1251-44del	XP_011519946.1:n.1251-47_1251-44del
XM_011521645.1:c.1389-47_1389-44del	XP_011519947.1:n.1389-47_1389-44del
XM_011521646.1:c.1389-47_1389-44del	XP_011519948.1:n.1389-47_1389-44del
XM_011521647.1:c.1389-47_1389-44del	XP_011519949.1:n.1389-47_1389-44del
XR_931843.1:n.2750-47_2750-44del
XM_011521640.2:c.1365-47_1365-44del	XP_011519942.1:n.1365-47_1365-44del
XM_017022255.1:c.1389-47_1389-44del	XP_016877744.1:n.1389-47_1389-44del
XM_017022256.1:c.1389-47_1389-44del	XP_016877745.1:n.1389-47_1389-44del
XM_017022257.1:c.1317-47_1317-44del	XP_016877746.1:n.1317-47_1317-44del
XM_017022258.1:c.1389-47_1389-44del	XP_016877747.1:n.1389-47_1389-44del
XM_017022259.1:c.1317-47_1317-44del	XP_016877748.1:n.1317-47_1317-44del
XM_017022260.1:c.1251-47_1251-44del	XP_016877749.1:n.1251-47_1251-44del
XM_017022261.1:c.1194-47_1194-44del	XP_016877750.1:n.1194-47_1194-44del
XM_017022262.1:c.1389-47_1389-44del	XP_016877751.1:n.1389-47_1389-44del
XM_017022263.1:c.1389-47_1389-44del	XP_016877752.1:n.1389-47_1389-44del
XM_017022264.1:c.1389-47_1389-44del	XP_016877753.1:n.1389-47_1389-44del
XM_017022265.1:c.1389-47_1389-44del	XP_016877754.1:n.1389-47_1389-44del
XR_001751294.1:n.1478-47_1478-44del
NM_000275.3:c.1365-47_1365-44del MANE Select	NP_000266.2:n.1365-47_1365-44del
NM_001300984.2:c.1293-47_1293-44del	NP_001287913.1:n.1293-47_1293-44del