Canonical Allele Identifier: CA2627389039

Gene: OCA2

Linked Data

• gnomAD v4: 15-28099108-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28099108T>C , CM000677.2:g.28099108T>C	GRCh38
NC_000015.9:g.28344254T>C , CM000677.1:g.28344254T>C	GRCh37
NC_000015.8:g.26017849T>C	NCBI36
NG_009846.1:g.5205A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+116A>G MANE Select	ENSP00000346659.3:n.-22+116A>G
ENST00000353809.9:c.-22+116A>G	ENSP00000261276.8:n.-22+116A>G
ENST00000354638.7:c.-22+116A>G	ENSP00000346659.3:n.-22+116A>G
ENST00000431101.1:c.-22+3A>G	ENSP00000415431.1:n.-22+3A>G
ENST00000445578.5:c.-22+116A>G	ENSP00000414425.1:n.-22+116A>G
NM_000275.2:c.-22+116A>G	NP_000266.2:n.-22+116A>G
NM_001300984.1:c.-22+116A>G	NP_001287913.1:n.-22+116A>G
XM_011521640.1:c.-22+116A>G	XP_011519942.1:n.-22+116A>G
XM_011521640.2:c.-22+116A>G	XP_011519942.1:n.-22+116A>G
NM_000275.3:c.-22+116A>G MANE Select	NP_000266.2:n.-22+116A>G
NM_001300984.2:c.-22+116A>G	NP_001287913.1:n.-22+116A>G