Canonical Allele Identifier: CA282618
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45787
ClinVar RCV Id: RCV000039014 RCV000206171 RCV000250478 RCV000625402 RCV000770202 RCV003904933
dbSNP Id: rs17049982
ExAC: 4:120107310 C / T
gnomAD v2: 4-120107310-C-T
gnomAD v3: 4-119186155-C-T
gnomAD v4: 4-119186155-C-T
MyVariant Identifiers: chr4:g.120107310C>T (hg19) chr4:g.119186155C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119186155C>T , CM000666.2:g.119186155C>T GRCh38
NC_000004.11:g.120107310C>T , CM000666.1:g.120107310C>T GRCh37
NC_000004.10:g.120326758C>T NCBI36
NG_029747.1:g.55372C>T , LRG_396:g.55372C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.750C>T MANE Select ENSP00000306997.6:p.Thr250=
ENST00000307128.5:c.750C>T ENSP00000306997.5:p.Thr250=
NM_016599.4:c.750C>T , LRG_396t1:c.750C>T NP_057683.1:p.Thr250=
NM_016599.5:c.750C>T MANE Select NP_057683.1:p.Thr250=
Search 100 bp 5'
Search 100 bp 3'