Canonical Allele Identifier: CA104971826
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1735415
ClinVar RCV Id: RCV002364059
dbSNP Id: rs1051918078
gnomAD v2: 4-120085372-C-T
gnomAD v3: 4-119164217-C-T
gnomAD v4: 4-119164217-C-T
MyVariant Identifiers: chr4:g.120085372C>T (hg19) chr4:g.119164217C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164217C>T , CM000666.2:g.119164217C>T GRCh38
NC_000004.11:g.120085372C>T , CM000666.1:g.120085372C>T GRCh37
NC_000004.10:g.120304820C>T NCBI36
NG_029747.1:g.33434C>T , LRG_396:g.33434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.383C>T MANE Select ENSP00000306997.6:p.Ser128Phe
ENST00000307128.5:c.383C>T ENSP00000306997.5:p.Ser128Phe
NM_016599.4:c.383C>T , LRG_396t1:c.383C>T NP_057683.1:p.Ser128Phe
XM_006714234.2:c.383C>T XP_006714297.1:p.Ser128Phe
XM_006714234.4:c.383C>T XP_006714297.1:p.Ser128Phe
NM_016599.5:c.383C>T MANE Select NP_057683.1:p.Ser128Phe
Search 100 bp 5'
Search 100 bp 3'