Canonical Allele Identifier: CA233956512

Gene: AEBP2

Linked Data

• dbSNP Id: rs6486986
• gnomAD v2: 12-19801595-G-T
• gnomAD v3: 12-19648661-G-T
• gnomAD v4: 12-19648661-G-T
• MyVariant Identifiers: chr12:g.19801595G>T (hg19) ; chr12:g.19648661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.19648661G>T , CM000674.2:g.19648661G>T	GRCh38
NC_000012.11:g.19801595G>T , CM000674.1:g.19801595G>T	GRCh37
NC_000012.10:g.19692862G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000512223.6:c.339-71972G>T	ENSP00000445587.1:n.339-71972G>T
XR_242921.2:n.253-1735G>T
XR_931408.1:n.77-1735G>T
XR_001749034.2:n.472-1735G>T
XR_001749035.1:n.526-1735G>T
XR_001749036.1:n.526-1037G>T
XR_001749037.1:n.276-1735G>T
XR_002957408.1:n.134-1735G>T