Canonical Allele Identifier: CA835018760
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs1246320853
gnomAD v4: 7-148807259-A-G
MyVariant Identifiers: chr7:g.148504351A>G (hg19) chr7:g.148807259A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807259A>G , CM000669.2:g.148807259A>G GRCh38
NC_000007.13:g.148504351A>G , CM000669.1:g.148504351A>G GRCh37
NC_000007.12:g.148135284A>G NCBI36
NG_032043.1:g.82091T>C , LRG_531:g.82091T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1539T>C ENSP00000507503.1:n.*1539T>C
XR_928101.1:n.515+2174A>G
XR_928102.1:n.722+2174A>G
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