Canonical Allele Identifier: CA711751956

Gene: OCA2

Linked Data

• dbSNP Id: rs1439333322
• gnomAD v3: 15-28090656-TATAAC-T
• gnomAD v4: 15-28090656-TATAAC-T
• MyVariant Identifiers: chr15:g.28335803_28335807del (hg19) ; chr15:g.28090657_28090661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28090660_28090664del , CM000677.2:g.28090660_28090664del	GRCh38
NC_000015.9:g.28335806_28335810del , CM000677.1:g.28335806_28335810del	GRCh37
NC_000015.8:g.26009401_26009405del	NCBI36
NG_009846.1:g.13652_13656del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+8563_-22+8567del MANE Select	ENSP00000346659.3:n.-22+8563_-22+8567del
ENST00000353809.9:c.-22+8563_-22+8567del	ENSP00000261276.8:n.-22+8563_-22+8567del
ENST00000354638.7:c.-22+8563_-22+8567del	ENSP00000346659.3:n.-22+8563_-22+8567del
ENST00000431101.1:c.-22+8450_-22+8454del	ENSP00000415431.1:n.-22+8450_-22+8454del
ENST00000445578.5:c.-22+8563_-22+8567del	ENSP00000414425.1:n.-22+8563_-22+8567del
NM_000275.2:c.-22+8563_-22+8567del	NP_000266.2:n.-22+8563_-22+8567del
NM_001300984.1:c.-22+8563_-22+8567del	NP_001287913.1:n.-22+8563_-22+8567del
XM_011521640.1:c.-22+8563_-22+8567del	XP_011519942.1:n.-22+8563_-22+8567del
XM_011521640.2:c.-22+8563_-22+8567del	XP_011519942.1:n.-22+8563_-22+8567del
NM_000275.3:c.-22+8563_-22+8567del MANE Select	NP_000266.2:n.-22+8563_-22+8567del
NM_001300984.2:c.-22+8563_-22+8567del	NP_001287913.1:n.-22+8563_-22+8567del