Canonical Allele Identifier: CA15767482

Gene: AEBP2

Linked Data

• dbSNP Id: rs10841287
• gnomAD v2: 12-19779793-T-C
• gnomAD v3: 12-19626859-T-C
• gnomAD v4: 12-19626859-T-C
• MyVariant Identifiers: chr12:g.19779793T>C (hg19) ; chr12:g.19626859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.19626859T>C , CM000674.2:g.19626859T>C	GRCh38
NC_000012.11:g.19779793T>C , CM000674.1:g.19779793T>C	GRCh37
NC_000012.10:g.19671060T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000512223.6:c.339-93774T>C	ENSP00000445587.1:n.339-93774T>C
XR_242921.2:n.253-23537T>C
XR_931408.1:n.76+853T>C
XR_001749034.2:n.472-23537T>C
XR_001749035.1:n.526-23537T>C
XR_001749036.1:n.526-22839T>C
XR_001749037.1:n.276-23537T>C
XR_002957408.1:n.133+853T>C