Canonical Allele Identifier: CA267898301

Gene: OCA2

Linked Data

• dbSNP Id: rs997864996
• gnomAD v3: 15-28093421-A-AAAG
• gnomAD v4: 15-28093421-A-AAAG
• MyVariant Identifiers: chr15:g.28338567_28338568insAAG (hg19) ; chr15:g.28093421_28093422insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093423_28093424insGAA , CM000677.2:g.28093423_28093424insGAA	GRCh38
NC_000015.9:g.28338569_28338570insGAA , CM000677.1:g.28338569_28338570insGAA	GRCh37
NC_000015.8:g.26012164_26012165insGAA	NCBI36
NG_009846.1:g.10891_10892insCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+5802_-22+5803insCTT MANE Select	ENSP00000346659.3:n.-22+5802_-22+5803insCTT
ENST00000353809.9:c.-22+5802_-22+5803insCTT	ENSP00000261276.8:n.-22+5802_-22+5803insCTT
ENST00000354638.7:c.-22+5802_-22+5803insCTT	ENSP00000346659.3:n.-22+5802_-22+5803insCTT
ENST00000431101.1:c.-22+5689_-22+5690insCTT	ENSP00000415431.1:n.-22+5689_-22+5690insCTT
ENST00000445578.5:c.-22+5802_-22+5803insCTT	ENSP00000414425.1:n.-22+5802_-22+5803insCTT
NM_000275.2:c.-22+5802_-22+5803insCTT	NP_000266.2:n.-22+5802_-22+5803insCTT
NM_001300984.1:c.-22+5802_-22+5803insCTT	NP_001287913.1:n.-22+5802_-22+5803insCTT
XM_011521640.1:c.-22+5802_-22+5803insCTT	XP_011519942.1:n.-22+5802_-22+5803insCTT
XM_011521640.2:c.-22+5802_-22+5803insCTT	XP_011519942.1:n.-22+5802_-22+5803insCTT
NM_000275.3:c.-22+5802_-22+5803insCTT MANE Select	NP_000266.2:n.-22+5802_-22+5803insCTT
NM_001300984.2:c.-22+5802_-22+5803insCTT	NP_001287913.1:n.-22+5802_-22+5803insCTT