Canonical Allele Identifier: CA358201362
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120107131C>A (hg19) chr4:g.119185976C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185976C>A , CM000666.2:g.119185976C>A GRCh38
NC_000004.11:g.120107131C>A , CM000666.1:g.120107131C>A GRCh37
NC_000004.10:g.120326579C>A NCBI36
NG_029747.1:g.55193C>A , LRG_396:g.55193C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.571C>A MANE Select ENSP00000306997.6:p.Pro191Thr
ENST00000307128.5:c.571C>A ENSP00000306997.5:p.Pro191Thr
NM_016599.4:c.571C>A , LRG_396t1:c.571C>A NP_057683.1:p.Pro191Thr
NM_016599.5:c.571C>A MANE Select NP_057683.1:p.Pro191Thr
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