Canonical Allele Identifier: CA1488821424
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185897T= , CM000666.2:g.119185897T= GRCh38
NC_000004.11:g.120107052T= , CM000666.1:g.120107052T= GRCh37
NC_000004.10:g.120326500T= NCBI36
NG_029747.1:g.55114T= , LRG_396:g.55114T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-69T= MANE Select ENSP00000306997.6:n.561-69T=
ENST00000307128.5:c.561-69T= ENSP00000306997.5:n.561-69T=
NM_016599.4:c.561-69T= , LRG_396t1:c.561-69T= NP_057683.1:n.561-69T=
NM_016599.5:c.561-69T= MANE Select NP_057683.1:n.561-69T=