Canonical Allele Identifier: CA2685463931
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807370-A-ATGAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807372_148807375dup , CM000669.2:g.148807372_148807375dup GRCh38
NC_000007.13:g.148504464_148504467dup , CM000669.1:g.148504464_148504467dup GRCh37
NC_000007.12:g.148135397_148135400dup NCBI36
NG_032043.1:g.81976_81979dup , LRG_531:g.81976_81979dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1424_*1427dup ENSP00000507503.1:n.*1424_*1427dup
XR_928101.1:n.515+2287_515+2290dup
XR_928102.1:n.722+2287_722+2290dup
Search 100 bp 5'
Search 100 bp 3'