Canonical Allele Identifier: CA711753353

Gene: OCA2

Linked Data

• dbSNP Id: rs1253109978
• gnomAD v3: 15-28093420-AAAAAG-A
• gnomAD v4: 15-28093420-AAAAAG-A
• MyVariant Identifiers: chr15:g.28338567_28338571del (hg19) ; chr15:g.28093421_28093425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093424_28093428del , CM000677.2:g.28093424_28093428del	GRCh38
NC_000015.9:g.28338570_28338574del , CM000677.1:g.28338570_28338574del	GRCh37
NC_000015.8:g.26012165_26012169del	NCBI36
NG_009846.1:g.10888_10892del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+5799_-22+5803del MANE Select	ENSP00000346659.3:n.-22+5799_-22+5803del
ENST00000353809.9:c.-22+5799_-22+5803del	ENSP00000261276.8:n.-22+5799_-22+5803del
ENST00000354638.7:c.-22+5799_-22+5803del	ENSP00000346659.3:n.-22+5799_-22+5803del
ENST00000431101.1:c.-22+5686_-22+5690del	ENSP00000415431.1:n.-22+5686_-22+5690del
ENST00000445578.5:c.-22+5799_-22+5803del	ENSP00000414425.1:n.-22+5799_-22+5803del
NM_000275.2:c.-22+5799_-22+5803del	NP_000266.2:n.-22+5799_-22+5803del
NM_001300984.1:c.-22+5799_-22+5803del	NP_001287913.1:n.-22+5799_-22+5803del
XM_011521640.1:c.-22+5799_-22+5803del	XP_011519942.1:n.-22+5799_-22+5803del
XM_011521640.2:c.-22+5799_-22+5803del	XP_011519942.1:n.-22+5799_-22+5803del
NM_000275.3:c.-22+5799_-22+5803del MANE Select	NP_000266.2:n.-22+5799_-22+5803del
NM_001300984.2:c.-22+5799_-22+5803del	NP_001287913.1:n.-22+5799_-22+5803del