Canonical Allele Identifier: CA233954024

Gene: AEBP2

Linked Data

• dbSNP Id: rs111236513
• gnomAD v2: 12-19779749-T-C
• gnomAD v3: 12-19626815-T-C
• gnomAD v4: 12-19626815-T-C
• MyVariant Identifiers: chr12:g.19779749T>C (hg19) ; chr12:g.19626815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.19626815T>C , CM000674.2:g.19626815T>C	GRCh38
NC_000012.11:g.19779749T>C , CM000674.1:g.19779749T>C	GRCh37
NC_000012.10:g.19671016T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000512223.6:c.339-93818T>C	ENSP00000445587.1:n.339-93818T>C
XR_242921.2:n.252+23502T>C
XR_931408.1:n.76+809T>C
XR_001749034.2:n.472-23581T>C
XR_001749035.1:n.525+23502T>C
XR_001749036.1:n.526-22883T>C
XR_001749037.1:n.275+23502T>C
XR_002957408.1:n.133+809T>C