Canonical Allele Identifier: CA603779800

Gene: AEBP2

Linked Data

• dbSNP Id: rs1470332180
• gnomAD v2: 12-19801625-A-G
• gnomAD v3: 12-19648691-A-G
• gnomAD v4: 12-19648691-A-G
• MyVariant Identifiers: chr12:g.19801625A>G (hg19) ; chr12:g.19648691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.19648691A>G , CM000674.2:g.19648691A>G	GRCh38
NC_000012.11:g.19801625A>G , CM000674.1:g.19801625A>G	GRCh37
NC_000012.10:g.19692892A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512223.6:c.339-71942A>G	ENSP00000445587.1:n.339-71942A>G
XR_242921.2:n.253-1705A>G
XR_931408.1:n.77-1705A>G
XR_001749034.2:n.472-1705A>G
XR_001749035.1:n.526-1705A>G
XR_001749036.1:n.526-1007A>G
XR_001749037.1:n.276-1705A>G
XR_002957408.1:n.134-1705A>G