Canonical Allele Identifier: CA267898432

Gene: OCA2

Linked Data

• dbSNP Id: rs569865247
• gnomAD v3: 15-28093583-C-A
• gnomAD v4: 15-28093583-C-A
• MyVariant Identifiers: chr15:g.28338729C>A (hg19) ; chr15:g.28093583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093583C>A , CM000677.2:g.28093583C>A	GRCh38
NC_000015.9:g.28338729C>A , CM000677.1:g.28338729C>A	GRCh37
NC_000015.8:g.26012324C>A	NCBI36
NG_009846.1:g.10730G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+5641G>T MANE Select	ENSP00000346659.3:n.-22+5641G>T
ENST00000353809.9:c.-22+5641G>T	ENSP00000261276.8:n.-22+5641G>T
ENST00000354638.7:c.-22+5641G>T	ENSP00000346659.3:n.-22+5641G>T
ENST00000431101.1:c.-22+5528G>T	ENSP00000415431.1:n.-22+5528G>T
ENST00000445578.5:c.-22+5641G>T	ENSP00000414425.1:n.-22+5641G>T
NM_000275.2:c.-22+5641G>T	NP_000266.2:n.-22+5641G>T
NM_001300984.1:c.-22+5641G>T	NP_001287913.1:n.-22+5641G>T
XM_011521640.1:c.-22+5641G>T	XP_011519942.1:n.-22+5641G>T
XM_011521640.2:c.-22+5641G>T	XP_011519942.1:n.-22+5641G>T
NM_000275.3:c.-22+5641G>T MANE Select	NP_000266.2:n.-22+5641G>T
NM_001300984.2:c.-22+5641G>T	NP_001287913.1:n.-22+5641G>T