Canonical Allele Identifier: CA358201381
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120107136T>G (hg19) chr4:g.119185981T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185981T>G , CM000666.2:g.119185981T>G GRCh38
NC_000004.11:g.120107136T>G , CM000666.1:g.120107136T>G GRCh37
NC_000004.10:g.120326584T>G NCBI36
NG_029747.1:g.55198T>G , LRG_396:g.55198T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.576T>G MANE Select ENSP00000306997.6:p.Phe192Leu
ENST00000307128.5:c.576T>G ENSP00000306997.5:p.Phe192Leu
NM_016599.4:c.576T>G , LRG_396t1:c.576T>G NP_057683.1:p.Phe192Leu
NM_016599.5:c.576T>G MANE Select NP_057683.1:p.Phe192Leu
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