Canonical Allele Identifier: CA1488811885
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164291G= , CM000666.2:g.119164291G= GRCh38
NC_000004.11:g.120085446G= , CM000666.1:g.120085446G= GRCh37
NC_000004.10:g.120304894G= NCBI36
NG_029747.1:g.33508G= , LRG_396:g.33508G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.457G= MANE Select ENSP00000306997.6:p.Glu153=
ENST00000307128.5:c.457G= ENSP00000306997.5:p.Glu153=
NM_016599.4:c.457G= , LRG_396t1:c.457G= NP_057683.1:p.Glu153=
XM_006714234.2:c.457G= XP_006714297.1:p.Glu153=
XM_006714234.4:c.457G= XP_006714297.1:p.Glu153=
NM_016599.5:c.457G= MANE Select NP_057683.1:p.Glu153=