Canonical Allele Identifier: CA1488821418
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185883T= , CM000666.2:g.119185883T= GRCh38
NC_000004.11:g.120107038T= , CM000666.1:g.120107038T= GRCh37
NC_000004.10:g.120326486T= NCBI36
NG_029747.1:g.55100T= , LRG_396:g.55100T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-83T= MANE Select ENSP00000306997.6:n.561-83T=
ENST00000307128.5:c.561-83T= ENSP00000306997.5:n.561-83T=
NM_016599.4:c.561-83T= , LRG_396t1:c.561-83T= NP_057683.1:n.561-83T=
NM_016599.5:c.561-83T= MANE Select NP_057683.1:n.561-83T=