Canonical Allele Identifier: CA267898408

Gene: OCA2

Linked Data

• dbSNP Id: rs904042207
• MyVariant Identifiers: chr15:g.28338709_28338710insG (hg19) ; chr15:g.28093563_28093564insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093563_28093564insG , CM000677.2:g.28093563_28093564insG	GRCh38
NC_000015.9:g.28338709_28338710insG , CM000677.1:g.28338709_28338710insG	GRCh37
NC_000015.8:g.26012304_26012305insG	NCBI36
NG_009846.1:g.10749_10750insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5660_-22+5661insC MANE Select	ENSP00000346659.3:n.-22+5660_-22+5661insC
ENST00000353809.9:c.-22+5660_-22+5661insC	ENSP00000261276.8:n.-22+5660_-22+5661insC
ENST00000354638.7:c.-22+5660_-22+5661insC	ENSP00000346659.3:n.-22+5660_-22+5661insC
ENST00000431101.1:c.-22+5547_-22+5548insC	ENSP00000415431.1:n.-22+5547_-22+5548insC
ENST00000445578.5:c.-22+5660_-22+5661insC	ENSP00000414425.1:n.-22+5660_-22+5661insC
NM_000275.2:c.-22+5660_-22+5661insC	NP_000266.2:n.-22+5660_-22+5661insC
NM_001300984.1:c.-22+5660_-22+5661insC	NP_001287913.1:n.-22+5660_-22+5661insC
XM_011521640.1:c.-22+5660_-22+5661insC	XP_011519942.1:n.-22+5660_-22+5661insC
XM_011521640.2:c.-22+5660_-22+5661insC	XP_011519942.1:n.-22+5660_-22+5661insC
NM_000275.3:c.-22+5660_-22+5661insC MANE Select	NP_000266.2:n.-22+5660_-22+5661insC
NM_001300984.2:c.-22+5660_-22+5661insC	NP_001287913.1:n.-22+5660_-22+5661insC