Canonical Allele Identifier: CA358204320
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120085481G>T (hg19) chr4:g.119164326G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164326G>T , CM000666.2:g.119164326G>T GRCh38
NC_000004.11:g.120085481G>T , CM000666.1:g.120085481G>T GRCh37
NC_000004.10:g.120304929G>T NCBI36
NG_029747.1:g.33543G>T , LRG_396:g.33543G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.492G>T MANE Select ENSP00000306997.6:p.Glu164Asp
ENST00000307128.5:c.492G>T ENSP00000306997.5:p.Glu164Asp
NM_016599.4:c.492G>T , LRG_396t1:c.492G>T NP_057683.1:p.Glu164Asp
XM_006714234.2:c.492G>T XP_006714297.1:p.Glu164Asp
XM_006714234.4:c.492G>T XP_006714297.1:p.Glu164Asp
NM_016599.5:c.492G>T MANE Select NP_057683.1:p.Glu164Asp
Search 100 bp 5'
Search 100 bp 3'