Canonical Allele Identifier: CA578646206

Gene: EZH2

Linked Data

• dbSNP Id: rs1460665733
• gnomAD v2: 7-148504376-C-CAAAG
• gnomAD v3: 7-148807284-C-CAAAG
• gnomAD v4: 7-148807284-C-CAAAG
• MyVariant Identifiers: chr7:g.148504376_148504377insAAAG (hg19) ; chr7:g.148807284_148807285insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807286_148807289dup , CM000669.2:g.148807286_148807289dup	GRCh38
NC_000007.13:g.148504378_148504381dup , CM000669.1:g.148504378_148504381dup	GRCh37
NC_000007.12:g.148135311_148135314dup	NCBI36
NG_032043.1:g.82062_82065dup , LRG_531:g.82062_82065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1510_*1513dup	ENSP00000507503.1:n.*1510_*1513dup
XR_928101.1:n.515+2201_515+2204dup
XR_928102.1:n.722+2201_722+2204dup