Canonical Allele Identifier: CA711753439

Gene: OCA2

Linked Data

• dbSNP Id: rs139752788
• MyVariant Identifiers: chr15:g.28338701del (hg19) ; chr15:g.28093555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093563del , CM000677.2:g.28093563del	GRCh38
NC_000015.9:g.28338709del , CM000677.1:g.28338709del	GRCh37
NC_000015.8:g.26012304del	NCBI36
NG_009846.1:g.10758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5669del MANE Select	ENSP00000346659.3:n.-22+5669del
ENST00000353809.9:c.-22+5669del	ENSP00000261276.8:n.-22+5669del
ENST00000354638.7:c.-22+5669del	ENSP00000346659.3:n.-22+5669del
ENST00000431101.1:c.-22+5556del	ENSP00000415431.1:n.-22+5556del
ENST00000445578.5:c.-22+5669del	ENSP00000414425.1:n.-22+5669del
NM_000275.2:c.-22+5669del	NP_000266.2:n.-22+5669del
NM_001300984.1:c.-22+5669del	NP_001287913.1:n.-22+5669del
XM_011521640.1:c.-22+5669del	XP_011519942.1:n.-22+5669del
XM_011521640.2:c.-22+5669del	XP_011519942.1:n.-22+5669del
NM_000275.3:c.-22+5669del MANE Select	NP_000266.2:n.-22+5669del
NM_001300984.2:c.-22+5669del	NP_001287913.1:n.-22+5669del