Canonical Allele Identifier: CA3058550
Gene: MYOZ2 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'