Canonical Allele Identifier: CA358204457
Gene: MYOZ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164387T>A , CM000666.2:g.119164387T>A GRCh38
NC_000004.11:g.120085542T>A , CM000666.1:g.120085542T>A GRCh37
NC_000004.10:g.120304990T>A NCBI36
NG_029747.1:g.33604T>A , LRG_396:g.33604T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.553T>A MANE Select ENSP00000306997.6:p.Phe185Ile
ENST00000307128.5:c.553T>A ENSP00000306997.5:p.Phe185Ile
NM_016599.4:c.553T>A , LRG_396t1:c.553T>A NP_057683.1:p.Phe185Ile
XM_006714234.2:c.553T>A XP_006714297.1:p.Phe185Ile
XM_006714234.4:c.553T>A XP_006714297.1:p.Phe185Ile
NM_016599.5:c.553T>A MANE Select NP_057683.1:p.Phe185Ile