Canonical Allele Identifier: CA2685463932

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807372-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807372G>T , CM000669.2:g.148807372G>T	GRCh38
NC_000007.13:g.148504464G>T , CM000669.1:g.148504464G>T	GRCh37
NC_000007.12:g.148135397G>T	NCBI36
NG_032043.1:g.81978C>A , LRG_531:g.81978C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683292.1:c.*1426C>A	ENSP00000507503.1:n.*1426C>A
NM_001203247.1:c.*274C>A	NP_001190176.1:n.*274C>A
NM_001203248.1:c.*274C>A	NP_001190177.1:n.*274C>A
NM_001203249.1:c.*274C>A	NP_001190178.1:n.*274C>A
NM_004456.4:c.*274C>A , LRG_531t1:c.*274C>A	NP_004447.2:n.*274C>A
NM_152998.2:c.*274C>A	NP_694543.1:n.*274C>A
XR_928101.1:n.515+2287G>T
XR_928102.1:n.722+2287G>T