Canonical Allele Identifier: CA1488821434

Gene: MYOZ2

Linked Data

• dbSNP Id: rs1742282509

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119185915dup , CM000666.2:g.119185915dup	GRCh38
NC_000004.11:g.120107070dup , CM000666.1:g.120107070dup	GRCh37
NC_000004.10:g.120326518dup	NCBI36
NG_029747.1:g.55132dup , LRG_396:g.55132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.561-51dup MANE Select	ENSP00000306997.6:n.561-51dup
ENST00000307128.5:c.561-51dup	ENSP00000306997.5:n.561-51dup
NM_016599.4:c.561-51dup , LRG_396t1:c.561-51dup	NP_057683.1:n.561-51dup
NM_016599.5:c.561-51dup MANE Select	NP_057683.1:n.561-51dup