Canonical Allele Identifier: CA786094099
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1372941372
gnomAD v3: 4-119185981-TG-T
gnomAD v4: 4-119185981-TG-T
MyVariant Identifiers: chr4:g.120107137del (hg19) chr4:g.119185982del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185983del , CM000666.2:g.119185983del GRCh38
NC_000004.11:g.120107138del , CM000666.1:g.120107138del GRCh37
NC_000004.10:g.120326586del NCBI36
NG_029747.1:g.55200del , LRG_396:g.55200del

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.578del MANE Select ENSP00000306997.6:p.Gly193GlufsTer22
ENST00000307128.5:c.578del ENSP00000306997.5:p.Gly193GlufsTer22
NM_016599.4:c.578del , LRG_396t1:c.578del NP_057683.1:p.Gly193GlufsTer22
NM_016599.5:c.578del MANE Select NP_057683.1:p.Gly193GlufsTer22
Search 100 bp 5'
Search 100 bp 3'