Canonical Allele Identifier: CA233954033

Gene: AEBP2

Linked Data

• dbSNP Id: rs1013933986
• gnomAD v2: 12-19779835-C-T
• gnomAD v3: 12-19626901-C-T
• gnomAD v4: 12-19626901-C-T
• MyVariant Identifiers: chr12:g.19779835C>T (hg19) ; chr12:g.19626901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.19626901C>T , CM000674.2:g.19626901C>T	GRCh38
NC_000012.11:g.19779835C>T , CM000674.1:g.19779835C>T	GRCh37
NC_000012.10:g.19671102C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000512223.6:c.339-93732C>T	ENSP00000445587.1:n.339-93732C>T
XR_242921.2:n.253-23495C>T
XR_931408.1:n.76+895C>T
XR_001749034.2:n.472-23495C>T
XR_001749035.1:n.526-23495C>T
XR_001749036.1:n.526-22797C>T
XR_001749037.1:n.276-23495C>T
XR_002957408.1:n.133+895C>T