Canonical Allele Identifier: CA711751993

Gene: OCA2

Linked Data

• dbSNP Id: rs1231300633
• MyVariant Identifiers: chr15:g.28335898_28335899del (hg19) ; chr15:g.28090752_28090753del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28090753_28090754del , CM000677.2:g.28090753_28090754del	GRCh38
NC_000015.9:g.28335899_28335900del , CM000677.1:g.28335899_28335900del	GRCh37
NC_000015.8:g.26009494_26009495del	NCBI36
NG_009846.1:g.13560_13561del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+8471_-22+8472del MANE Select	ENSP00000346659.3:n.-22+8471_-22+8472del
ENST00000353809.9:c.-22+8471_-22+8472del	ENSP00000261276.8:n.-22+8471_-22+8472del
ENST00000354638.7:c.-22+8471_-22+8472del	ENSP00000346659.3:n.-22+8471_-22+8472del
ENST00000431101.1:c.-22+8358_-22+8359del	ENSP00000415431.1:n.-22+8358_-22+8359del
ENST00000445578.5:c.-22+8471_-22+8472del	ENSP00000414425.1:n.-22+8471_-22+8472del
NM_000275.2:c.-22+8471_-22+8472del	NP_000266.2:n.-22+8471_-22+8472del
NM_001300984.1:c.-22+8471_-22+8472del	NP_001287913.1:n.-22+8471_-22+8472del
XM_011521640.1:c.-22+8471_-22+8472del	XP_011519942.1:n.-22+8471_-22+8472del
XM_011521640.2:c.-22+8471_-22+8472del	XP_011519942.1:n.-22+8471_-22+8472del
NM_000275.3:c.-22+8471_-22+8472del MANE Select	NP_000266.2:n.-22+8471_-22+8472del
NM_001300984.2:c.-22+8471_-22+8472del	NP_001287913.1:n.-22+8471_-22+8472del