Canonical Allele Identifier: CA945360186

Gene: AEBP2

Linked Data

• dbSNP Id: rs1591763597
• gnomAD v3: 12-19648702-C-G
• gnomAD v4: 12-19648702-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.19648702C>G , CM000674.2:g.19648702C>G	GRCh38
NC_000012.11:g.19801636C>G , CM000674.1:g.19801636C>G	GRCh37
NC_000012.10:g.19692903C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512223.6:c.339-71931C>G	ENSP00000445587.1:n.339-71931C>G
XR_242921.2:n.253-1694C>G
XR_931408.1:n.77-1694C>G
XR_001749034.2:n.472-1694C>G
XR_001749035.1:n.526-1694C>G
XR_001749036.1:n.526-996C>G
XR_001749037.1:n.276-1694C>G
XR_002957408.1:n.134-1694C>G