Canonical Allele Identifier: CA1751419037
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs1801723755
gnomAD v4: 7-148807302-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807302C>G , CM000669.2:g.148807302C>G GRCh38
NC_000007.13:g.148504394C>G , CM000669.1:g.148504394C>G GRCh37
NC_000007.12:g.148135327C>G NCBI36
NG_032043.1:g.82048G>C , LRG_531:g.82048G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1496G>C ENSP00000507503.1:n.*1496G>C
XR_928101.1:n.515+2217C>G
XR_928102.1:n.722+2217C>G
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