Canonical Allele Identifier: CA2166464709

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28090674A= , CM000677.2:g.28090674A=	GRCh38
NC_000015.9:g.28335820A= , CM000677.1:g.28335820A=	GRCh37
NC_000015.8:g.26009415A=	NCBI36
NG_009846.1:g.13639T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.-22+8550T= MANE Select	NP_000266.2:n.-22+8550T=
ENST00000354638.8:c.-22+8550T= MANE Select	ENSP00000346659.3:n.-22+8550T=
NM_000275.2:c.-22+8550T=	NP_000266.2:n.-22+8550T=
NM_001300984.1:c.-22+8550T=	NP_001287913.1:n.-22+8550T=
NM_001300984.2:c.-22+8550T=	NP_001287913.1:n.-22+8550T=
ENST00000353809.9:c.-22+8550T=	ENSP00000261276.8:n.-22+8550T=
ENST00000354638.7:c.-22+8550T=	ENSP00000346659.3:n.-22+8550T=
ENST00000431101.1:c.-22+8437T=	ENSP00000415431.1:n.-22+8437T=
ENST00000445578.5:c.-22+8550T=	ENSP00000414425.1:n.-22+8550T=
XM_011521640.1:c.-22+8550T=	XP_011519942.1:n.-22+8550T=
XM_011521640.2:c.-22+8550T=	XP_011519942.1:n.-22+8550T=