Canonical Allele Identifier: CA616700831

Gene: OCA2

Linked Data

• dbSNP Id: rs902263790
• gnomAD v2: 15-28343992-G-T
• gnomAD v3: 15-28098846-G-T
• gnomAD v4: 15-28098846-G-T
• MyVariant Identifiers: chr15:g.28343992G>T (hg19) ; chr15:g.28098846G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28098846G>T , CM000677.2:g.28098846G>T	GRCh38
NC_000015.9:g.28343992G>T , CM000677.1:g.28343992G>T	GRCh37
NC_000015.8:g.26017587G>T	NCBI36
NG_009846.1:g.5467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+378C>A MANE Select	ENSP00000346659.3:n.-22+378C>A
ENST00000353809.9:c.-22+378C>A	ENSP00000261276.8:n.-22+378C>A
ENST00000354638.7:c.-22+378C>A	ENSP00000346659.3:n.-22+378C>A
ENST00000431101.1:c.-22+265C>A	ENSP00000415431.1:n.-22+265C>A
ENST00000445578.5:c.-22+378C>A	ENSP00000414425.1:n.-22+378C>A
NM_000275.2:c.-22+378C>A	NP_000266.2:n.-22+378C>A
NM_001300984.1:c.-22+378C>A	NP_001287913.1:n.-22+378C>A
XM_011521640.1:c.-22+378C>A	XP_011519942.1:n.-22+378C>A
XM_011521640.2:c.-22+378C>A	XP_011519942.1:n.-22+378C>A
NM_000275.3:c.-22+378C>A MANE Select	NP_000266.2:n.-22+378C>A
NM_001300984.2:c.-22+378C>A	NP_001287913.1:n.-22+378C>A