Canonical Allele Identifier: CA358201378
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120107135T>A (hg19) chr4:g.119185980T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185980T>A , CM000666.2:g.119185980T>A GRCh38
NC_000004.11:g.120107135T>A , CM000666.1:g.120107135T>A GRCh37
NC_000004.10:g.120326583T>A NCBI36
NG_029747.1:g.55197T>A , LRG_396:g.55197T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.575T>A MANE Select ENSP00000306997.6:p.Phe192Tyr
ENST00000307128.5:c.575T>A ENSP00000306997.5:p.Phe192Tyr
NM_016599.4:c.575T>A , LRG_396t1:c.575T>A NP_057683.1:p.Phe192Tyr
NM_016599.5:c.575T>A MANE Select NP_057683.1:p.Phe192Tyr
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