Canonical Allele Identifier: CA2166452635

Gene: OCA2

Linked Data

• dbSNP Id: rs981238438
• gnomAD v3: 15-28098944-C-G
• gnomAD v4: 15-28098944-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28098944C>G , CM000677.2:g.28098944C>G	GRCh38
NC_000015.9:g.28344090C>G , CM000677.1:g.28344090C>G	GRCh37
NC_000015.8:g.26017685C>G	NCBI36
NG_009846.1:g.5369G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+280G>C MANE Select	ENSP00000346659.3:n.-22+280G>C
ENST00000353809.9:c.-22+280G>C	ENSP00000261276.8:n.-22+280G>C
ENST00000354638.7:c.-22+280G>C	ENSP00000346659.3:n.-22+280G>C
ENST00000431101.1:c.-22+167G>C	ENSP00000415431.1:n.-22+167G>C
ENST00000445578.5:c.-22+280G>C	ENSP00000414425.1:n.-22+280G>C
NM_000275.2:c.-22+280G>C	NP_000266.2:n.-22+280G>C
NM_001300984.1:c.-22+280G>C	NP_001287913.1:n.-22+280G>C
XM_011521640.1:c.-22+280G>C	XP_011519942.1:n.-22+280G>C
XM_011521640.2:c.-22+280G>C	XP_011519942.1:n.-22+280G>C
NM_000275.3:c.-22+280G>C MANE Select	NP_000266.2:n.-22+280G>C
NM_001300984.2:c.-22+280G>C	NP_001287913.1:n.-22+280G>C