Canonical Allele Identifier: CA968021493

Gene: OCA2

Linked Data

• dbSNP Id: rs2045032521
• gnomAD v3: 15-28098828-A-C
• gnomAD v4: 15-28098828-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28098828A>C , CM000677.2:g.28098828A>C	GRCh38
NC_000015.9:g.28343974A>C , CM000677.1:g.28343974A>C	GRCh37
NC_000015.8:g.26017569A>C	NCBI36
NG_009846.1:g.5485T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+396T>G MANE Select	ENSP00000346659.3:n.-22+396T>G
ENST00000353809.9:c.-22+396T>G	ENSP00000261276.8:n.-22+396T>G
ENST00000354638.7:c.-22+396T>G	ENSP00000346659.3:n.-22+396T>G
ENST00000431101.1:c.-22+283T>G	ENSP00000415431.1:n.-22+283T>G
ENST00000445578.5:c.-22+396T>G	ENSP00000414425.1:n.-22+396T>G
NM_000275.2:c.-22+396T>G	NP_000266.2:n.-22+396T>G
NM_001300984.1:c.-22+396T>G	NP_001287913.1:n.-22+396T>G
XM_011521640.1:c.-22+396T>G	XP_011519942.1:n.-22+396T>G
XM_011521640.2:c.-22+396T>G	XP_011519942.1:n.-22+396T>G
NM_000275.3:c.-22+396T>G MANE Select	NP_000266.2:n.-22+396T>G
NM_001300984.2:c.-22+396T>G	NP_001287913.1:n.-22+396T>G