Canonical Allele Identifier: CA129293

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 30509
• ClinVar RCV Id: RCV000023466 ; RCV000024477 ; RCV000039013 ; RCV000330572
• dbSNP Id: rs140126678
• ExAC: 4:120107298 A / G
• gnomAD v2: 4-120107298-A-G
• gnomAD v3: 4-119186143-A-G
• gnomAD v4: 4-119186143-A-G
• MyVariant Identifiers: chr4:g.120107298A>G (hg19) ; chr4:g.119186143A>G (hg38)
• PubMed: PMID:17347475 ; PMID:22987565

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119186143A>G , CM000666.2:g.119186143A>G	GRCh38
NC_000004.11:g.120107298A>G , CM000666.1:g.120107298A>G	GRCh37
NC_000004.10:g.120326746A>G	NCBI36
NG_029747.1:g.55360A>G , LRG_396:g.55360A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.738A>G MANE Select	ENSP00000306997.6:p.Ile246Met
ENST00000307128.5:c.738A>G	ENSP00000306997.5:p.Ile246Met
NM_016599.4:c.738A>G , LRG_396t1:c.738A>G	NP_057683.1:p.Ile246Met
NM_016599.5:c.738A>G MANE Select	NP_057683.1:p.Ile246Met