Canonical Allele Identifier: CA026559

Gene: OCA2

Linked Data

• ClinVar Variation Id: 952
• ClinVar RCV Id: RCV000001002 ; RCV000001003
• dbSNP Id: rs1555375711
• PubMed: PMID:7920637 ; PMID:11179026 ; PMID:17767372

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28018399_28018559del , CM000677.2:g.28018399_28018559del	GRCh38
NC_000015.9:g.28263545_28263705del , CM000677.1:g.28263545_28263705del	GRCh37
NC_000015.8:g.25937140_25937300del	NCBI36
NG_009846.1:g.85756_85916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.647_807del
ENST00000353809.9:c.647_807del
ENST00000354638.7:c.647_807del
ENST00000445578.5:c.574-2371_574-2211del	ENSP00000414425.1:n.574-2371_574-2211del
NM_000275.2:c.647_807del
NM_001300984.1:c.647_807del
XM_011521639.1:c.671_831del
XM_011521640.1:c.647_807del
XM_011521641.1:c.671_831del
XM_011521642.1:c.671_831del
XM_011521643.1:c.671_831del
XM_011521644.1:c.671_831del
XM_011521645.1:c.671_831del
XM_011521646.1:c.671_831del
XM_011521647.1:c.671_831del
XR_931843.1:n.2032_2192del
XM_011521640.2:c.647_807del
XM_017022255.1:c.671_831del
XM_017022256.1:c.671_831del
XM_017022257.1:c.671_831del
XM_017022258.1:c.671_831del
XM_017022259.1:c.671_831del
XM_017022260.1:c.671_831del
XM_017022261.1:c.476_636del
XM_017022262.1:c.671_831del
XM_017022263.1:c.671_831del
XM_017022264.1:c.671_831del
XM_017022265.1:c.671_831del
XR_001751294.1:n.760_920del
NM_000275.3:c.647_807del
NM_001300984.2:c.647_807del