Canonical Allele Identifier: CA237430
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45783
ClinVar RCV Id: RCV002490531
dbSNP Id: rs200077093
ExAC: 4:120085436 A / T
gnomAD v2: 4-120085436-A-T
gnomAD v3: 4-119164281-A-T
gnomAD v4: 4-119164281-A-T
MyVariant Identifiers: chr4:g.120085436A>T (hg19) chr4:g.119164281A>T (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164281A>T , CM000666.2:g.119164281A>T GRCh38
NC_000004.11:g.120085436A>T , CM000666.1:g.120085436A>T GRCh37
NC_000004.10:g.120304884A>T NCBI36
NG_029747.1:g.33498A>T , LRG_396:g.33498A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.447A>T MANE Select ENSP00000306997.6:p.Gln149His
ENST00000307128.5:c.447A>T ENSP00000306997.5:p.Gln149His
NM_016599.4:c.447A>T , LRG_396t1:c.447A>T NP_057683.1:p.Gln149His
XM_006714234.2:c.447A>T XP_006714297.1:p.Gln149His
XM_006714234.4:c.447A>T XP_006714297.1:p.Gln149His
NM_016599.5:c.447A>T MANE Select NP_057683.1:p.Gln149His
Search 100 bp 5'
Search 100 bp 3'