Canonical Allele Identifier: CA2166468407

Gene: OCA2

Linked Data

• dbSNP Id: rs2044906312

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093429_28093436del , CM000677.2:g.28093429_28093436del	GRCh38
NC_000015.9:g.28338575_28338582del , CM000677.1:g.28338575_28338582del	GRCh37
NC_000015.8:g.26012170_26012177del	NCBI36
NG_009846.1:g.10884_10891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5795_-22+5802del MANE Select	ENSP00000346659.3:n.-22+5795_-22+5802del
ENST00000353809.9:c.-22+5795_-22+5802del	ENSP00000261276.8:n.-22+5795_-22+5802del
ENST00000354638.7:c.-22+5795_-22+5802del	ENSP00000346659.3:n.-22+5795_-22+5802del
ENST00000431101.1:c.-22+5682_-22+5689del	ENSP00000415431.1:n.-22+5682_-22+5689del
ENST00000445578.5:c.-22+5795_-22+5802del	ENSP00000414425.1:n.-22+5795_-22+5802del
NM_000275.2:c.-22+5795_-22+5802del	NP_000266.2:n.-22+5795_-22+5802del
NM_001300984.1:c.-22+5795_-22+5802del	NP_001287913.1:n.-22+5795_-22+5802del
XM_011521640.1:c.-22+5795_-22+5802del	XP_011519942.1:n.-22+5795_-22+5802del
XM_011521640.2:c.-22+5795_-22+5802del	XP_011519942.1:n.-22+5795_-22+5802del
NM_000275.3:c.-22+5795_-22+5802del MANE Select	NP_000266.2:n.-22+5795_-22+5802del
NM_001300984.2:c.-22+5795_-22+5802del	NP_001287913.1:n.-22+5795_-22+5802del