Canonical Allele Identifier: CA10895486

Gene: PGBD2

Linked Data

• dbSNP Id: rs12032643
• gnomAD v2: 1-249168436-G-A
• gnomAD v3: 1-248874237-G-A
• gnomAD v4: 1-248874237-G-A
• MyVariant Identifiers: chr1:g.249168436G>A (hg19) ; chr1:g.248874237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.248874237G>A , CM000663.2:g.248874237G>A	GRCh38
NC_000001.10:g.249168436G>A , CM000663.1:g.249168436G>A	GRCh37
NC_000001.9:g.247135059G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011544160.1:c.-102+345G>A	XP_011542462.1:n.-102+345G>A
XM_011544161.1:c.-48+345G>A	XP_011542463.1:n.-48+345G>A
XM_011544161.3:c.-48+345G>A	XP_011542463.1:n.-48+345G>A