Canonical Allele Identifier: CA835018761

Gene: EZH2

Linked Data

• dbSNP Id: rs1323839377
• gnomAD v3: 7-148807262-A-ATTAGT
• gnomAD v4: 7-148807262-A-ATTAGT
• MyVariant Identifiers: chr7:g.148504354_148504355insTTAGT (hg19) ; chr7:g.148807262_148807263insTTAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807264_148807268dup , CM000669.2:g.148807264_148807268dup	GRCh38
NC_000007.13:g.148504356_148504360dup , CM000669.1:g.148504356_148504360dup	GRCh37
NC_000007.12:g.148135289_148135293dup	NCBI36
NG_032043.1:g.82083_82087dup , LRG_531:g.82083_82087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1531_*1535dup	ENSP00000507503.1:n.*1531_*1535dup
XR_928101.1:n.515+2179_515+2183dup
XR_928102.1:n.722+2179_722+2183dup