Canonical Allele Identifier: CA3058652

Gene: MYOZ2

Linked Data

• dbSNP Id: rs758731733
• ExAC: 4:120085483 CT / C
• gnomAD v2: 4-120085483-CT-C
• gnomAD v4: 4-119164328-CT-C
• MyVariant Identifiers: chr4:g.120085484del (hg19) ; chr4:g.119164329del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164331del , CM000666.2:g.119164331del	GRCh38
NC_000004.11:g.120085486del , CM000666.1:g.120085486del	GRCh37
NC_000004.10:g.120304934del	NCBI36
NG_029747.1:g.33548del , LRG_396:g.33548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.497del MANE Select	ENSP00000306997.6:p.Leu166TyrfsTer?
ENST00000307128.5:c.497del	ENSP00000306997.5:p.Leu166TyrfsTer?
NM_016599.4:c.497del , LRG_396t1:c.497del	NP_057683.1:p.Leu166TyrfsTer?
XM_006714234.2:c.497del	XP_006714297.1:p.Leu166TyrfsTer?
XM_006714234.4:c.497del	XP_006714297.1:p.Leu166TyrfsTer?
NM_016599.5:c.497del MANE Select	NP_057683.1:p.Leu166TyrfsTer?