Canonical Allele Identifier: CA267902777
Gene: OCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1003256844
MyVariant Identifiers: chr15:g.28099103G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28099103G>A , CM000677.2:g.28099103G>A GRCh38
NC_000015.9:g.28344249G>A , CM000677.1:g.28344249G>A GRCh37
NC_000015.8:g.26017844G>A NCBI36
NG_009846.1:g.5210C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.-22+121C>T MANE Select ENSP00000346659.3:n.-22+121C>T
ENST00000353809.9:c.-22+121C>T ENSP00000261276.8:n.-22+121C>T
ENST00000354638.7:c.-22+121C>T ENSP00000346659.3:n.-22+121C>T
ENST00000431101.1:c.-22+8C>T ENSP00000415431.1:n.-22+8C>T
ENST00000445578.5:c.-22+121C>T ENSP00000414425.1:n.-22+121C>T
NM_000275.2:c.-22+121C>T NP_000266.2:n.-22+121C>T
NM_001300984.1:c.-22+121C>T NP_001287913.1:n.-22+121C>T
XM_011521640.1:c.-22+121C>T XP_011519942.1:n.-22+121C>T
XM_011521640.2:c.-22+121C>T XP_011519942.1:n.-22+121C>T
NM_000275.3:c.-22+121C>T MANE Select NP_000266.2:n.-22+121C>T
NM_001300984.2:c.-22+121C>T NP_001287913.1:n.-22+121C>T