Canonical Allele Identifier: CA267915350

Gene: OCA2

Linked Data

• dbSNP Id: rs545071158
• gnomAD v2: 15-28328885-A-AAG
• gnomAD v3: 15-28083739-A-AAG
• gnomAD v4: 15-28083739-A-AAG
• MyVariant Identifiers: chr15:g.28328885_28328886insAG (hg19) ; chr15:g.28083739_28083740insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28083749_28083750dup , CM000677.2:g.28083749_28083750dup	GRCh38
NC_000015.9:g.28328895_28328896dup , CM000677.1:g.28328895_28328896dup	GRCh37
NC_000015.8:g.26002490_26002491dup	NCBI36
NG_009846.1:g.20572_20573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-21-1846_-21-1845dup MANE Select	ENSP00000346659.3:n.-21-1846_-21-1845dup
ENST00000353809.9:c.-21-1846_-21-1845dup	ENSP00000261276.8:n.-21-1846_-21-1845dup
ENST00000354638.7:c.-21-1846_-21-1845dup	ENSP00000346659.3:n.-21-1846_-21-1845dup
ENST00000431101.1:c.-21-1846_-21-1845dup	ENSP00000415431.1:n.-21-1846_-21-1845dup
ENST00000445578.5:c.-21-1846_-21-1845dup	ENSP00000414425.1:n.-21-1846_-21-1845dup
NM_000275.2:c.-21-1846_-21-1845dup	NP_000266.2:n.-21-1846_-21-1845dup
NM_001300984.1:c.-21-1846_-21-1845dup	NP_001287913.1:n.-21-1846_-21-1845dup
XM_011521639.1:c.-591-221_-591-220dup	XP_011519941.1:n.-591-221_-591-220dup
XM_011521640.1:c.-21-1846_-21-1845dup	XP_011519942.1:n.-21-1846_-21-1845dup
XM_011521641.1:c.-591-221_-591-220dup	XP_011519943.1:n.-591-221_-591-220dup
XM_011521642.1:c.-591-221_-591-220dup	XP_011519944.1:n.-591-221_-591-220dup
XM_011521643.1:c.-591-221_-591-220dup	XP_011519945.1:n.-591-221_-591-220dup
XM_011521644.1:c.-591-221_-591-220dup	XP_011519946.1:n.-591-221_-591-220dup
XM_011521645.1:c.-591-221_-591-220dup	XP_011519947.1:n.-591-221_-591-220dup
XM_011521646.1:c.-591-221_-591-220dup	XP_011519948.1:n.-591-221_-591-220dup
XM_011521647.1:c.-591-221_-591-220dup	XP_011519949.1:n.-591-221_-591-220dup
XR_931843.1:n.771-221_771-220dup
XM_011521640.2:c.-21-1846_-21-1845dup	XP_011519942.1:n.-21-1846_-21-1845dup
NM_000275.3:c.-21-1846_-21-1845dup MANE Select	NP_000266.2:n.-21-1846_-21-1845dup
NM_001300984.2:c.-21-1846_-21-1845dup	NP_001287913.1:n.-21-1846_-21-1845dup