Canonical Allele Identifier: CA835018766
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs1303949092
gnomAD v4: 7-148807293-C-A
MyVariant Identifiers: chr7:g.148504385C>A (hg19) chr7:g.148807293C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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