Canonical Allele Identifier: CA2627389038

Gene: OCA2

Linked Data

• gnomAD v4: 15-28099107-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28099107T>G , CM000677.2:g.28099107T>G	GRCh38
NC_000015.9:g.28344253T>G , CM000677.1:g.28344253T>G	GRCh37
NC_000015.8:g.26017848T>G	NCBI36
NG_009846.1:g.5206A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+117A>C MANE Select	ENSP00000346659.3:n.-22+117A>C
ENST00000353809.9:c.-22+117A>C	ENSP00000261276.8:n.-22+117A>C
ENST00000354638.7:c.-22+117A>C	ENSP00000346659.3:n.-22+117A>C
ENST00000431101.1:c.-22+4A>C	ENSP00000415431.1:n.-22+4A>C
ENST00000445578.5:c.-22+117A>C	ENSP00000414425.1:n.-22+117A>C
NM_000275.2:c.-22+117A>C	NP_000266.2:n.-22+117A>C
NM_001300984.1:c.-22+117A>C	NP_001287913.1:n.-22+117A>C
XM_011521640.1:c.-22+117A>C	XP_011519942.1:n.-22+117A>C
XM_011521640.2:c.-22+117A>C	XP_011519942.1:n.-22+117A>C
NM_000275.3:c.-22+117A>C MANE Select	NP_000266.2:n.-22+117A>C
NM_001300984.2:c.-22+117A>C	NP_001287913.1:n.-22+117A>C