Canonical Allele Identifier: CA168905190
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs914955269
gnomAD v3: 7-148807309-GTTAAAT-G
gnomAD v4: 7-148807309-GTTAAAT-G
MyVariant Identifiers: chr7:g.148504402_148504407del (hg19) chr7:g.148807310_148807315del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807315_148807320del , CM000669.2:g.148807315_148807320del GRCh38
NC_000007.13:g.148504407_148504412del , CM000669.1:g.148504407_148504412del GRCh37
NC_000007.12:g.148135340_148135345del NCBI36
NG_032043.1:g.82035_82040del , LRG_531:g.82035_82040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1483_*1488del ENSP00000507503.1:n.*1483_*1488del
XR_928101.1:n.515+2230_515+2235del
XR_928102.1:n.722+2230_722+2235del
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