Canonical Allele Identifier: CA358204088

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 1735411
• ClinVar RCV Id: RCV002355435
• MyVariant Identifiers: chr4:g.120085372C>G (hg19) ; chr4:g.119164217C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.383C>G MANE Select	ENSP00000306997.6:p.Ser128Cys
ENST00000307128.5:c.383C>G	ENSP00000306997.5:p.Ser128Cys
NM_016599.4:c.383C>G , LRG_396t1:c.383C>G	NP_057683.1:p.Ser128Cys
XM_006714234.2:c.383C>G	XP_006714297.1:p.Ser128Cys
XM_006714234.4:c.383C>G	XP_006714297.1:p.Ser128Cys
NM_016599.5:c.383C>G MANE Select	NP_057683.1:p.Ser128Cys