Canonical Allele Identifier: CA137040

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 45781
• ClinVar RCV Id: RCV000039006 ; RCV000621201 ; RCV000768522 ; RCV000770196
• dbSNP Id: rs76757102
• gnomAD v2: 4-120057709-A-G
• gnomAD v3: 4-119136554-A-G
• gnomAD v4: 4-119136554-A-G
• MyVariant Identifiers: chr4:g.120057709A>G (hg19) ; chr4:g.119136554A>G (hg38)
• PubMed: PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119136554A>G , CM000666.2:g.119136554A>G	GRCh38
NC_000004.11:g.120057709A>G , CM000666.1:g.120057709A>G	GRCh37
NC_000004.10:g.120277157A>G	NCBI36
NG_029747.1:g.5771A>G , LRG_396:g.5771A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307128.6:c.29A>G MANE Select	ENSP00000306997.6:p.Gln10Arg
ENST00000307128.5:c.29A>G	ENSP00000306997.5:p.Gln10Arg
NM_016599.4:c.29A>G , LRG_396t1:c.29A>G	NP_057683.1:p.Gln10Arg
XM_006714234.2:c.29A>G	XP_006714297.1:p.Gln10Arg
XM_006714234.4:c.29A>G	XP_006714297.1:p.Gln10Arg
NM_016599.5:c.29A>G MANE Select	NP_057683.1:p.Gln10Arg