Canonical Allele Identifier: CA711756381

Gene: OCA2

Linked Data

• dbSNP Id: rs1256300234
• gnomAD v4: 15-28099044-G-A
• MyVariant Identifiers: chr15:g.28344190G>A (hg19) ; chr15:g.28099044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28099044G>A , CM000677.2:g.28099044G>A	GRCh38
NC_000015.9:g.28344190G>A , CM000677.1:g.28344190G>A	GRCh37
NC_000015.8:g.26017785G>A	NCBI36
NG_009846.1:g.5269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+180C>T MANE Select	ENSP00000346659.3:n.-22+180C>T
ENST00000353809.9:c.-22+180C>T	ENSP00000261276.8:n.-22+180C>T
ENST00000354638.7:c.-22+180C>T	ENSP00000346659.3:n.-22+180C>T
ENST00000431101.1:c.-22+67C>T	ENSP00000415431.1:n.-22+67C>T
ENST00000445578.5:c.-22+180C>T	ENSP00000414425.1:n.-22+180C>T
NM_000275.2:c.-22+180C>T	NP_000266.2:n.-22+180C>T
NM_001300984.1:c.-22+180C>T	NP_001287913.1:n.-22+180C>T
XM_011521640.1:c.-22+180C>T	XP_011519942.1:n.-22+180C>T
XM_011521640.2:c.-22+180C>T	XP_011519942.1:n.-22+180C>T
NM_000275.3:c.-22+180C>T MANE Select	NP_000266.2:n.-22+180C>T
NM_001300984.2:c.-22+180C>T	NP_001287913.1:n.-22+180C>T