Canonical Allele Identifier: CA1751419029
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs1303949092
gnomAD v4: 7-148807293-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807293C>G , CM000669.2:g.148807293C>G GRCh38
NC_000007.13:g.148504385C>G , CM000669.1:g.148504385C>G GRCh37
NC_000007.12:g.148135318C>G NCBI36
NG_032043.1:g.82057G>C , LRG_531:g.82057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1505G>C ENSP00000507503.1:n.*1505G>C
XR_928101.1:n.515+2208C>G
XR_928102.1:n.722+2208C>G
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