Canonical Allele Identifier: CA835018774

Gene: EZH2

Linked Data

• dbSNP Id: rs1227138962
• gnomAD v4: 7-148807354-T-C
• MyVariant Identifiers: chr7:g.148504446T>C (hg19) ; chr7:g.148807354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807354T>C , CM000669.2:g.148807354T>C	GRCh38
NC_000007.13:g.148504446T>C , CM000669.1:g.148504446T>C	GRCh37
NC_000007.12:g.148135379T>C	NCBI36
NG_032043.1:g.81996A>G , LRG_531:g.81996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1444A>G	ENSP00000507503.1:n.*1444A>G
XR_928101.1:n.515+2269T>C
XR_928102.1:n.722+2269T>C