Canonical Allele Identifier: CA2803509002

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093431A>C , CM000677.2:g.28093431A>C	GRCh38
NC_000015.9:g.28338577A>C , CM000677.1:g.28338577A>C	GRCh37
NC_000015.8:g.26012172A>C	NCBI36
NG_009846.1:g.10882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5793T>G MANE Select	ENSP00000346659.3:n.-22+5793T>G
ENST00000353809.9:c.-22+5793T>G	ENSP00000261276.8:n.-22+5793T>G
ENST00000354638.7:c.-22+5793T>G	ENSP00000346659.3:n.-22+5793T>G
ENST00000431101.1:c.-22+5680T>G	ENSP00000415431.1:n.-22+5680T>G
ENST00000445578.5:c.-22+5793T>G	ENSP00000414425.1:n.-22+5793T>G
NM_000275.2:c.-22+5793T>G	NP_000266.2:n.-22+5793T>G
NM_001300984.1:c.-22+5793T>G	NP_001287913.1:n.-22+5793T>G
XM_011521640.1:c.-22+5793T>G	XP_011519942.1:n.-22+5793T>G
XM_011521640.2:c.-22+5793T>G	XP_011519942.1:n.-22+5793T>G
NM_000275.3:c.-22+5793T>G MANE Select	NP_000266.2:n.-22+5793T>G
NM_001300984.2:c.-22+5793T>G	NP_001287913.1:n.-22+5793T>G