Canonical Allele Identifier: CA168905215
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs1045101992
gnomAD v4: 7-148807311-TAAATTTAA-T
MyVariant Identifiers: chr7:g.148504404_148504411del (hg19) chr7:g.148807312_148807319del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807314_148807321del , CM000669.2:g.148807314_148807321del GRCh38
NC_000007.13:g.148504406_148504413del , CM000669.1:g.148504406_148504413del GRCh37
NC_000007.12:g.148135339_148135346del NCBI36
NG_032043.1:g.82031_82038del , LRG_531:g.82031_82038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1479_*1486del ENSP00000507503.1:n.*1479_*1486del
XR_928101.1:n.515+2229_515+2236del
XR_928102.1:n.722+2229_722+2236del
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