Canonical Allele Identifier: CA268293505

Gene: OCA2

Linked Data

• dbSNP Id: rs543868240
• gnomAD v2: 15-27997202-A-C
• gnomAD v3: 15-27752056-A-C
• gnomAD v4: 15-27752056-A-C
• MyVariant Identifiers: chr15:g.27997202A>C (hg19) ; chr15:g.27752056A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27752056A>C , CM000677.2:g.27752056A>C	GRCh38
NC_000015.9:g.27997202A>C , CM000677.1:g.27997202A>C	GRCh37
NC_000015.8:g.25670797A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_017022258.1:c.2457-32728T>G	XP_016877747.1:n.2457-32728T>G
XM_017022264.1:c.2292-32728T>G	XP_016877753.1:n.2292-32728T>G