Canonical Allele Identifier: CA3058566
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 227709
ClinVar RCV Id: RCV000214117 RCV000831515 RCV001084581 RCV001170134 RCV002453763
dbSNP Id: rs149125238
ExAC: 4:120072195 A / C
gnomAD v2: 4-120072195-A-C
gnomAD v3: 4-119151040-A-C
gnomAD v4: 4-119151040-A-C
MyVariant Identifiers: chr4:g.120072195A>C (hg19) chr4:g.119151040A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119151040A>C , CM000666.2:g.119151040A>C GRCh38
NC_000004.11:g.120072195A>C , CM000666.1:g.120072195A>C GRCh37
NC_000004.10:g.120291643A>C NCBI36
NG_029747.1:g.20257A>C , LRG_396:g.20257A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.245A>C MANE Select ENSP00000306997.6:p.Asn82Thr
ENST00000307128.5:c.245A>C ENSP00000306997.5:p.Asn82Thr
NM_016599.4:c.245A>C , LRG_396t1:c.245A>C NP_057683.1:p.Asn82Thr
XM_006714234.2:c.245A>C XP_006714297.1:p.Asn82Thr
XM_006714234.4:c.245A>C XP_006714297.1:p.Asn82Thr
NM_016599.5:c.245A>C MANE Select NP_057683.1:p.Asn82Thr
Search 100 bp 5'
Search 100 bp 3'