Canonical Allele Identifier: CA391365269

Gene: OCA2

Linked Data

• dbSNP Id: rs139752788
• gnomAD v2: 15-28338700-T-TA
• gnomAD v3: 15-28093554-T-TA
• gnomAD v4: 15-28093554-T-TA
• MyVariant Identifiers: chr15:g.28338700_28338701insA (hg19) ; chr15:g.28093554_28093555insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093563dup , CM000677.2:g.28093563dup	GRCh38
NC_000015.9:g.28338709dup , CM000677.1:g.28338709dup	GRCh37
NC_000015.8:g.26012304dup	NCBI36
NG_009846.1:g.10758dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5669dup MANE Select	ENSP00000346659.3:n.-22+5669dup
ENST00000353809.9:c.-22+5669dup	ENSP00000261276.8:n.-22+5669dup
ENST00000354638.7:c.-22+5669dup	ENSP00000346659.3:n.-22+5669dup
ENST00000431101.1:c.-22+5556dup	ENSP00000415431.1:n.-22+5556dup
ENST00000445578.5:c.-22+5669dup	ENSP00000414425.1:n.-22+5669dup
NM_000275.2:c.-22+5669dup	NP_000266.2:n.-22+5669dup
NM_001300984.1:c.-22+5669dup	NP_001287913.1:n.-22+5669dup
XM_011521640.1:c.-22+5669dup	XP_011519942.1:n.-22+5669dup
XM_011521640.2:c.-22+5669dup	XP_011519942.1:n.-22+5669dup
NM_000275.3:c.-22+5669dup MANE Select	NP_000266.2:n.-22+5669dup
NM_001300984.2:c.-22+5669dup	NP_001287913.1:n.-22+5669dup