Canonical Allele Identifier: CA3058628
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420805
ClinVar RCV Id: RCV001923589
dbSNP Id: rs781466292
ExAC: 4:120085381 T / A
gnomAD v2: 4-120085381-T-A
gnomAD v3: 4-119164226-T-A
gnomAD v4: 4-119164226-T-A
MyVariant Identifiers: chr4:g.120085381T>A (hg19) chr4:g.119164226T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164226T>A , CM000666.2:g.119164226T>A GRCh38
NC_000004.11:g.120085381T>A , CM000666.1:g.120085381T>A GRCh37
NC_000004.10:g.120304829T>A NCBI36
NG_029747.1:g.33443T>A , LRG_396:g.33443T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.392T>A MANE Select ENSP00000306997.6:p.Leu131Gln
ENST00000307128.5:c.392T>A ENSP00000306997.5:p.Leu131Gln
NM_016599.4:c.392T>A , LRG_396t1:c.392T>A NP_057683.1:p.Leu131Gln
XM_006714234.2:c.392T>A XP_006714297.1:p.Leu131Gln
XM_006714234.4:c.392T>A XP_006714297.1:p.Leu131Gln
NM_016599.5:c.392T>A MANE Select NP_057683.1:p.Leu131Gln
Search 100 bp 5'
Search 100 bp 3'