Canonical Allele Identifier: CA1488821461
Gene: MYOZ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185981_119185982delinsTG , CM000666.2:g.119185981_119185982delinsTG GRCh38
NC_000004.11:g.120107136_120107137delinsTG , CM000666.1:g.120107136_120107137delinsTG GRCh37
NC_000004.10:g.120326584_120326585delinsTG NCBI36
NG_029747.1:g.55198_55199delinsTG , LRG_396:g.55198_55199delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.576_577delinsTG MANE Select ENSP00000306997.6:p.Phe192=
ENST00000307128.5:c.576_577delinsTG ENSP00000306997.5:p.Phe192=
NM_016599.4:c.576_577delinsTG , LRG_396t1:c.576_577delinsTG NP_057683.1:p.Phe192=
NM_016599.5:c.576_577delinsTG MANE Select NP_057683.1:p.Phe192=
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