Canonical Allele Identifier: CA2590318506

Gene: OCA2

Linked Data

• gnomAD v3: 15-28083563-AGTT-A
• gnomAD v4: 15-28083563-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28083566_28083568del , CM000677.2:g.28083566_28083568del	GRCh38
NC_000015.9:g.28328712_28328714del , CM000677.1:g.28328712_28328714del	GRCh37
NC_000015.8:g.26002307_26002309del	NCBI36
NG_009846.1:g.20747_20749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-21-1671_-21-1669del MANE Select	ENSP00000346659.3:n.-21-1671_-21-1669del
ENST00000353809.9:c.-21-1671_-21-1669del	ENSP00000261276.8:n.-21-1671_-21-1669del
ENST00000354638.7:c.-21-1671_-21-1669del	ENSP00000346659.3:n.-21-1671_-21-1669del
ENST00000431101.1:c.-21-1671_-21-1669del	ENSP00000415431.1:n.-21-1671_-21-1669del
ENST00000445578.5:c.-21-1671_-21-1669del	ENSP00000414425.1:n.-21-1671_-21-1669del
NM_000275.2:c.-21-1671_-21-1669del	NP_000266.2:n.-21-1671_-21-1669del
NM_001300984.1:c.-21-1671_-21-1669del	NP_001287913.1:n.-21-1671_-21-1669del
XM_011521639.1:c.-591-46_-591-44del	XP_011519941.1:n.-591-46_-591-44del
XM_011521640.1:c.-21-1671_-21-1669del	XP_011519942.1:n.-21-1671_-21-1669del
XM_011521641.1:c.-591-46_-591-44del	XP_011519943.1:n.-591-46_-591-44del
XM_011521642.1:c.-591-46_-591-44del	XP_011519944.1:n.-591-46_-591-44del
XM_011521643.1:c.-591-46_-591-44del	XP_011519945.1:n.-591-46_-591-44del
XM_011521644.1:c.-591-46_-591-44del	XP_011519946.1:n.-591-46_-591-44del
XM_011521645.1:c.-591-46_-591-44del	XP_011519947.1:n.-591-46_-591-44del
XM_011521646.1:c.-591-46_-591-44del	XP_011519948.1:n.-591-46_-591-44del
XM_011521647.1:c.-591-46_-591-44del	XP_011519949.1:n.-591-46_-591-44del
XR_931843.1:n.771-46_771-44del
XM_011521640.2:c.-21-1671_-21-1669del	XP_011519942.1:n.-21-1671_-21-1669del
NM_000275.3:c.-21-1671_-21-1669del MANE Select	NP_000266.2:n.-21-1671_-21-1669del
NM_001300984.2:c.-21-1671_-21-1669del	NP_001287913.1:n.-21-1671_-21-1669del