Canonical Allele Identifier: CA10617002
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 347423
ClinVar RCV Id: RCV002480209
dbSNP Id: rs533440962
gnomAD v2: 4-120108608-C-CA
gnomAD v3: 4-119187453-C-CA
gnomAD v4: 4-119187453-C-CA
MyVariant Identifiers: chr4:g.120108617dupA (hg19) chr4:g.120108609_120108610insA (hg19) chr4:g.120108608_120108609insA (hg19) chr4:g.119187462dupA (hg38) chr4:g.119187454_119187455insA (hg38) chr4:g.119187453_119187454insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119187462dup , CM000666.2:g.119187462dup GRCh38
NC_000004.11:g.120108617dup , CM000666.1:g.120108617dup GRCh37
NC_000004.10:g.120328065dup NCBI36
NG_029747.1:g.56679dup , LRG_396:g.56679dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.*1262dup MANE Select ENSP00000306997.6:n.*1262dup
ENST00000307128.5:c.*1262dup ENSP00000306997.5:n.*1262dup
NM_016599.4:c.*1262dup , LRG_396t1:c.*1262dup NP_057683.1:n.*1262dup
NM_016599.5:c.*1262dup MANE Select NP_057683.1:n.*1262dup
Search 100 bp 5'
Search 100 bp 3'