Canonical Allele Identifier: CA358204380
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120085507C>A (hg19) chr4:g.119164352C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164352C>A , CM000666.2:g.119164352C>A GRCh38
NC_000004.11:g.120085507C>A , CM000666.1:g.120085507C>A GRCh37
NC_000004.10:g.120304955C>A NCBI36
NG_029747.1:g.33569C>A , LRG_396:g.33569C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.518C>A MANE Select ENSP00000306997.6:p.Pro173His
ENST00000307128.5:c.518C>A ENSP00000306997.5:p.Pro173His
NM_016599.4:c.518C>A , LRG_396t1:c.518C>A NP_057683.1:p.Pro173His
XM_006714234.2:c.518C>A XP_006714297.1:p.Pro173His
XM_006714234.4:c.518C>A XP_006714297.1:p.Pro173His
NM_016599.5:c.518C>A MANE Select NP_057683.1:p.Pro173His
Search 100 bp 5'
Search 100 bp 3'