Canonical Allele Identifier: CA1488821446
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185946T= , CM000666.2:g.119185946T= GRCh38
NC_000004.11:g.120107101T= , CM000666.1:g.120107101T= GRCh37
NC_000004.10:g.120326549T= NCBI36
NG_029747.1:g.55163T= , LRG_396:g.55163T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-20T= MANE Select ENSP00000306997.6:n.561-20T=
ENST00000307128.5:c.561-20T= ENSP00000306997.5:n.561-20T=
NM_016599.4:c.561-20T= , LRG_396t1:c.561-20T= NP_057683.1:n.561-20T=
NM_016599.5:c.561-20T= MANE Select NP_057683.1:n.561-20T=