Canonical Allele Identifier: CA3058550

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 426256
• ClinVar RCV Id: RCV000490177 ; RCV000545242 ; RCV001170133 ; RCV002395187
• dbSNP Id: rs148908208
• ExAC: 4:120072096 A / G
• gnomAD v2: 4-120072096-A-G
• gnomAD v3: 4-119150941-A-G
• gnomAD v4: 4-119150941-A-G
• MyVariant Identifiers: chr4:g.120072096A>G (hg19) ; chr4:g.119150941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119150941A>G , CM000666.2:g.119150941A>G	GRCh38
NC_000004.11:g.120072096A>G , CM000666.1:g.120072096A>G	GRCh37
NC_000004.10:g.120291544A>G	NCBI36
NG_029747.1:g.20158A>G , LRG_396:g.20158A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.146A>G MANE Select	ENSP00000306997.6:p.His49Arg
ENST00000307128.5:c.146A>G	ENSP00000306997.5:p.His49Arg
NM_016599.4:c.146A>G , LRG_396t1:c.146A>G	NP_057683.1:p.His49Arg
XM_006714234.2:c.146A>G	XP_006714297.1:p.His49Arg
XM_006714234.4:c.146A>G	XP_006714297.1:p.His49Arg
NM_016599.5:c.146A>G MANE Select	NP_057683.1:p.His49Arg