Canonical Allele Identifier: CA711756418

Gene: OCA2

Linked Data

• dbSNP Id: rs1456043019
• gnomAD v4: 15-28099095-C-T
• MyVariant Identifiers: chr15:g.28344241C>T (hg19) ; chr15:g.28099095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28099095C>T , CM000677.2:g.28099095C>T	GRCh38
NC_000015.9:g.28344241C>T , CM000677.1:g.28344241C>T	GRCh37
NC_000015.8:g.26017836C>T	NCBI36
NG_009846.1:g.5218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+129G>A MANE Select	ENSP00000346659.3:n.-22+129G>A
ENST00000353809.9:c.-22+129G>A	ENSP00000261276.8:n.-22+129G>A
ENST00000354638.7:c.-22+129G>A	ENSP00000346659.3:n.-22+129G>A
ENST00000431101.1:c.-22+16G>A	ENSP00000415431.1:n.-22+16G>A
ENST00000445578.5:c.-22+129G>A	ENSP00000414425.1:n.-22+129G>A
NM_000275.2:c.-22+129G>A	NP_000266.2:n.-22+129G>A
NM_001300984.1:c.-22+129G>A	NP_001287913.1:n.-22+129G>A
XM_011521640.1:c.-22+129G>A	XP_011519942.1:n.-22+129G>A
XM_011521640.2:c.-22+129G>A	XP_011519942.1:n.-22+129G>A
NM_000275.3:c.-22+129G>A MANE Select	NP_000266.2:n.-22+129G>A
NM_001300984.2:c.-22+129G>A	NP_001287913.1:n.-22+129G>A