Canonical Allele Identifier: CA2671884579

Gene: MYOZ2

Linked Data

• gnomAD v4: 4-119185943-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119185952_119185953del , CM000666.2:g.119185952_119185953del	GRCh38
NC_000004.11:g.120107107_120107108del , CM000666.1:g.120107107_120107108del	GRCh37
NC_000004.10:g.120326555_120326556del	NCBI36
NG_029747.1:g.55169_55170del , LRG_396:g.55169_55170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.561-14_561-13del MANE Select	ENSP00000306997.6:n.561-14_561-13del
ENST00000307128.5:c.561-14_561-13del	ENSP00000306997.5:n.561-14_561-13del
NM_016599.4:c.561-14_561-13del , LRG_396t1:c.561-14_561-13del	NP_057683.1:n.561-14_561-13del
NM_016599.5:c.561-14_561-13del MANE Select	NP_057683.1:n.561-14_561-13del