Canonical Allele Identifier: CA1488821445

Gene: MYOZ2

Linked Data

• dbSNP Id: rs112369914

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119185950_119185953del , CM000666.2:g.119185950_119185953del	GRCh38
NC_000004.11:g.120107105_120107108del , CM000666.1:g.120107105_120107108del	GRCh37
NC_000004.10:g.120326553_120326556del	NCBI36
NG_029747.1:g.55167_55170del , LRG_396:g.55167_55170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.561-16_561-13del MANE Select	ENSP00000306997.6:n.561-16_561-13del
ENST00000307128.5:c.561-16_561-13del	ENSP00000306997.5:n.561-16_561-13del
NM_016599.4:c.561-16_561-13del , LRG_396t1:c.561-16_561-13del	NP_057683.1:n.561-16_561-13del
NM_016599.5:c.561-16_561-13del MANE Select	NP_057683.1:n.561-16_561-13del