Canonical Allele Identifier: CA3058683
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477201
ClinVar RCV Id: RCV002018677
dbSNP Id: rs775850657
ExAC: 4:120107126 C / T
gnomAD v2: 4-120107126-C-T
gnomAD v3: 4-119185971-C-T
gnomAD v4: 4-119185971-C-T
MyVariant Identifiers: chr4:g.120107126C>T (hg19) chr4:g.119185971C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185971C>T , CM000666.2:g.119185971C>T GRCh38
NC_000004.11:g.120107126C>T , CM000666.1:g.120107126C>T GRCh37
NC_000004.10:g.120326574C>T NCBI36
NG_029747.1:g.55188C>T , LRG_396:g.55188C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.566C>T MANE Select ENSP00000306997.6:p.Ala189Val
ENST00000307128.5:c.566C>T ENSP00000306997.5:p.Ala189Val
NM_016599.4:c.566C>T , LRG_396t1:c.566C>T NP_057683.1:p.Ala189Val
NM_016599.5:c.566C>T MANE Select NP_057683.1:p.Ala189Val
Search 100 bp 5'
Search 100 bp 3'