Canonical Allele Identifier: CA2685463900
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148807310-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807310T>G , CM000669.2:g.148807310T>G GRCh38
NC_000007.13:g.148504402T>G , CM000669.1:g.148504402T>G GRCh37
NC_000007.12:g.148135335T>G NCBI36
NG_032043.1:g.82040A>C , LRG_531:g.82040A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1488A>C ENSP00000507503.1:n.*1488A>C
XR_928101.1:n.515+2225T>G
XR_928102.1:n.722+2225T>G
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