Canonical Allele Identifier: CA616706593

Gene: OCA2

Linked Data

• dbSNP Id: rs1329005271
• gnomAD v2: 15-28235631-GA-G
• gnomAD v3: 15-27990485-GA-G
• gnomAD v4: 15-27990485-GA-G
• MyVariant Identifiers: chr15:g.28235632del (hg19) ; chr15:g.27990486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27990491del , CM000677.2:g.27990491del	GRCh38
NC_000015.9:g.28235637del , CM000677.1:g.28235637del	GRCh37
NC_000015.8:g.25909232del	NCBI36
NG_009846.1:g.113827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1116+90del MANE Select	ENSP00000346659.3:n.1116+90del
ENST00000353809.9:c.1045-820del	ENSP00000261276.8:n.1045-820del
ENST00000354638.7:c.1116+90del	ENSP00000346659.3:n.1116+90del
NM_000275.2:c.1116+90del	NP_000266.2:n.1116+90del
NM_001300984.1:c.1045-820del	NP_001287913.1:n.1045-820del
XM_011521639.1:c.1140+90del	XP_011519941.1:n.1140+90del
XM_011521640.1:c.1116+90del	XP_011519942.1:n.1116+90del
XM_011521641.1:c.1140+90del	XP_011519943.1:n.1140+90del
XM_011521642.1:c.1069-820del	XP_011519944.1:n.1069-820del
XM_011521643.1:c.1069-820del	XP_011519945.1:n.1069-820del
XM_011521644.1:c.1069-3843del	XP_011519946.1:n.1069-3843del
XM_011521645.1:c.1140+90del	XP_011519947.1:n.1140+90del
XM_011521646.1:c.1140+90del	XP_011519948.1:n.1140+90del
XM_011521647.1:c.1140+90del	XP_011519949.1:n.1140+90del
XR_931843.1:n.2501+90del
XM_011521640.2:c.1116+90del	XP_011519942.1:n.1116+90del
XM_017022255.1:c.1140+90del	XP_016877744.1:n.1140+90del
XM_017022256.1:c.1140+90del	XP_016877745.1:n.1140+90del
XM_017022257.1:c.1069-820del	XP_016877746.1:n.1069-820del
XM_017022258.1:c.1140+90del	XP_016877747.1:n.1140+90del
XM_017022259.1:c.1069-820del	XP_016877748.1:n.1069-820del
XM_017022260.1:c.1069-3843del	XP_016877749.1:n.1069-3843del
XM_017022261.1:c.945+90del	XP_016877750.1:n.945+90del
XM_017022262.1:c.1140+90del	XP_016877751.1:n.1140+90del
XM_017022263.1:c.1140+90del	XP_016877752.1:n.1140+90del
XM_017022264.1:c.1140+90del	XP_016877753.1:n.1140+90del
XM_017022265.1:c.1140+90del	XP_016877754.1:n.1140+90del
XR_001751294.1:n.1229+90del
NM_000275.3:c.1116+90del MANE Select	NP_000266.2:n.1116+90del
NM_001300984.2:c.1045-820del	NP_001287913.1:n.1045-820del