Canonical Allele Identifier: CA835018775

Gene: EZH2

Linked Data

• dbSNP Id: rs1388849898
• gnomAD v4: 7-148807364-TGA-T
• MyVariant Identifiers: chr7:g.148504457_148504458del (hg19) ; chr7:g.148807365_148807366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807369_148807370del , CM000669.2:g.148807369_148807370del	GRCh38
NC_000007.13:g.148504461_148504462del , CM000669.1:g.148504461_148504462del	GRCh37
NC_000007.12:g.148135394_148135395del	NCBI36
NG_032043.1:g.81984_81985del , LRG_531:g.81984_81985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1432_*1433del	ENSP00000507503.1:n.*1432_*1433del
XR_928101.1:n.515+2284_515+2285del
XR_928102.1:n.722+2284_722+2285del