Canonical Allele Identifier: CA2166468284

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093378_28093379delinsTC , CM000677.2:g.28093378_28093379delinsTC	GRCh38
NC_000015.9:g.28338524_28338525delinsTC , CM000677.1:g.28338524_28338525delinsTC	GRCh37
NC_000015.8:g.26012119_26012120delinsTC	NCBI36
NG_009846.1:g.10934_10935delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+5845_-22+5846delinsGA MANE Select	ENSP00000346659.3:n.-22+5845_-22+5846delinsGA
ENST00000353809.9:c.-22+5845_-22+5846delinsGA	ENSP00000261276.8:n.-22+5845_-22+5846delinsGA
ENST00000354638.7:c.-22+5845_-22+5846delinsGA	ENSP00000346659.3:n.-22+5845_-22+5846delinsGA
ENST00000431101.1:c.-22+5732_-22+5733delinsGA	ENSP00000415431.1:n.-22+5732_-22+5733delinsGA
ENST00000445578.5:c.-22+5845_-22+5846delinsGA	ENSP00000414425.1:n.-22+5845_-22+5846delinsGA
NM_000275.2:c.-22+5845_-22+5846delinsGA	NP_000266.2:n.-22+5845_-22+5846delinsGA
NM_001300984.1:c.-22+5845_-22+5846delinsGA	NP_001287913.1:n.-22+5845_-22+5846delinsGA
XM_011521640.1:c.-22+5845_-22+5846delinsGA	XP_011519942.1:n.-22+5845_-22+5846delinsGA
XM_011521640.2:c.-22+5845_-22+5846delinsGA	XP_011519942.1:n.-22+5845_-22+5846delinsGA
NM_000275.3:c.-22+5845_-22+5846delinsGA MANE Select	NP_000266.2:n.-22+5845_-22+5846delinsGA
NM_001300984.2:c.-22+5845_-22+5846delinsGA	NP_001287913.1:n.-22+5845_-22+5846delinsGA