Canonical Allele Identifier: CA1488811927
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164384A= , CM000666.2:g.119164384A= GRCh38
NC_000004.11:g.120085539A= , CM000666.1:g.120085539A= GRCh37
NC_000004.10:g.120304987A= NCBI36
NG_029747.1:g.33601A= , LRG_396:g.33601A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.550A= MANE Select ENSP00000306997.6:p.Ser184=
ENST00000307128.5:c.550A= ENSP00000306997.5:p.Ser184=
NM_016599.4:c.550A= , LRG_396t1:c.550A= NP_057683.1:p.Ser184=
XM_006714234.2:c.550A= XP_006714297.1:p.Ser184=
XM_006714234.4:c.550A= XP_006714297.1:p.Ser184=
NM_016599.5:c.550A= MANE Select NP_057683.1:p.Ser184=