Canonical Allele Identifier: CA2627388970

Gene: OCA2

Linked Data

• gnomAD v4: 15-28099044-GGACTCAGCCGCGCTAGGTCGGCTCCGTCGCACCCGTCTGTGCACACTAACCTTTAGGGGAACTTGCCTTGCTTCCTAAGCCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28099055_28099137del , CM000677.2:g.28099055_28099137del	GRCh38
NC_000015.9:g.28344201_28344283del , CM000677.1:g.28344201_28344283del	GRCh37
NC_000015.8:g.26017796_26017878del	NCBI36
NG_009846.1:g.5186_5268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+97_-22+179del MANE Select	ENSP00000346659.3:n.-22+97_-22+179del
ENST00000353809.9:c.-22+97_-22+179del	ENSP00000261276.8:n.-22+97_-22+179del
ENST00000354638.7:c.-22+97_-22+179del	ENSP00000346659.3:n.-22+97_-22+179del
ENST00000431101.1:c.-38_-22+66del
ENST00000445578.5:c.-22+97_-22+179del	ENSP00000414425.1:n.-22+97_-22+179del
NM_000275.2:c.-22+97_-22+179del	NP_000266.2:n.-22+97_-22+179del
NM_001300984.1:c.-22+97_-22+179del	NP_001287913.1:n.-22+97_-22+179del
XM_011521640.1:c.-22+97_-22+179del	XP_011519942.1:n.-22+97_-22+179del
XM_011521640.2:c.-22+97_-22+179del	XP_011519942.1:n.-22+97_-22+179del
NM_000275.3:c.-22+97_-22+179del MANE Select	NP_000266.2:n.-22+97_-22+179del
NM_001300984.2:c.-22+97_-22+179del	NP_001287913.1:n.-22+97_-22+179del