Canonical Allele Identifier: CA10654707
Gene: EZH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369578
ClinVar RCV Id: RCV000318757
dbSNP Id: rs543537882
gnomAD v2: 7-148504463-T-C
gnomAD v3: 7-148807371-T-C
gnomAD v4: 7-148807371-T-C
MyVariant Identifiers: chr7:g.148504463T>C (hg19) chr7:g.148807371T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807371T>C , CM000669.2:g.148807371T>C GRCh38
NC_000007.13:g.148504463T>C , CM000669.1:g.148504463T>C GRCh37
NC_000007.12:g.148135396T>C NCBI36
NG_032043.1:g.81979A>G , LRG_531:g.81979A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683292.1:c.*1427A>G ENSP00000507503.1:n.*1427A>G
XR_928101.1:n.515+2286T>C
XR_928102.1:n.722+2286T>C
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