Canonical Allele Identifier: CA2166468628

Gene: OCA2

Linked Data

• dbSNP Id: rs2044909493

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093553_28093554insC , CM000677.2:g.28093553_28093554insC	GRCh38
NC_000015.9:g.28338699_28338700insC , CM000677.1:g.28338699_28338700insC	GRCh37
NC_000015.8:g.26012294_26012295insC	NCBI36
NG_009846.1:g.10759_10760insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5670_-22+5671insG MANE Select	ENSP00000346659.3:n.-22+5670_-22+5671insG
ENST00000353809.9:c.-22+5670_-22+5671insG	ENSP00000261276.8:n.-22+5670_-22+5671insG
ENST00000354638.7:c.-22+5670_-22+5671insG	ENSP00000346659.3:n.-22+5670_-22+5671insG
ENST00000431101.1:c.-22+5557_-22+5558insG	ENSP00000415431.1:n.-22+5557_-22+5558insG
ENST00000445578.5:c.-22+5670_-22+5671insG	ENSP00000414425.1:n.-22+5670_-22+5671insG
NM_000275.2:c.-22+5670_-22+5671insG	NP_000266.2:n.-22+5670_-22+5671insG
NM_001300984.1:c.-22+5670_-22+5671insG	NP_001287913.1:n.-22+5670_-22+5671insG
XM_011521640.1:c.-22+5670_-22+5671insG	XP_011519942.1:n.-22+5670_-22+5671insG
XM_011521640.2:c.-22+5670_-22+5671insG	XP_011519942.1:n.-22+5670_-22+5671insG
NM_000275.3:c.-22+5670_-22+5671insG MANE Select	NP_000266.2:n.-22+5670_-22+5671insG
NM_001300984.2:c.-22+5670_-22+5671insG	NP_001287913.1:n.-22+5670_-22+5671insG