Canonical Allele Identifier: CA2578177031

Gene: MYOZ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164406del , CM000666.2:g.119164406del	GRCh38
NC_000004.11:g.120085561del , CM000666.1:g.120085561del	GRCh37
NC_000004.10:g.120305009del	NCBI36
NG_029747.1:g.33623del , LRG_396:g.33623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.560+12del MANE Select	ENSP00000306997.6:n.560+12del
ENST00000307128.5:c.560+12del	ENSP00000306997.5:n.560+12del
NM_016599.4:c.560+12del , LRG_396t1:c.560+12del	NP_057683.1:n.560+12del
XM_006714234.2:c.560+12del	XP_006714297.1:n.560+12del
XM_006714234.4:c.560+12del	XP_006714297.1:n.560+12del
NM_016599.5:c.560+12del MANE Select	NP_057683.1:n.560+12del