Canonical Allele Identifier: CA233956521
Gene: AEBP2 HGNC NCBI

Linked Data

dbSNP Id: rs543165857
gnomAD v2: 12-19801677-G-T
gnomAD v3: 12-19648743-G-T
gnomAD v4: 12-19648743-G-T
MyVariant Identifiers: chr12:g.19801677G>T (hg19) chr12:g.19648743G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.19648743G>T , CM000674.2:g.19648743G>T GRCh38
NC_000012.11:g.19801677G>T , CM000674.1:g.19801677G>T GRCh37
NC_000012.10:g.19692944G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000512223.6:c.339-71890G>T ENSP00000445587.1:n.339-71890G>T
XR_242921.2:n.253-1653G>T
XR_931408.1:n.77-1653G>T
XR_001749034.2:n.472-1653G>T
XR_001749035.1:n.526-1653G>T
XR_001749036.1:n.526-955G>T
XR_001749037.1:n.276-1653G>T
XR_002957408.1:n.134-1653G>T
Search 100 bp 5'
Search 100 bp 3'