Canonical Allele Identifier: CA711703736

Gene: OCA2

Linked Data

• dbSNP Id: rs1160290545
• gnomAD v3: 15-27752107-C-CAAAGGT
• gnomAD v4: 15-27752107-C-CAAAGGT
• MyVariant Identifiers: chr15:g.27997253_27997254insAAAGGT (hg19) ; chr15:g.27752107_27752108insAAAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27752110_27752115dup , CM000677.2:g.27752110_27752115dup	GRCh38
NC_000015.9:g.27997256_27997261dup , CM000677.1:g.27997256_27997261dup	GRCh37
NC_000015.8:g.25670851_25670856dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017022258.1:c.2457-32785_2457-32780dup	XP_016877747.1:n.2457-32785_2457-32780dup
XM_017022264.1:c.2292-32785_2292-32780dup	XP_016877753.1:n.2292-32785_2292-32780dup