Canonical Allele Identifier: CA358201531

Gene: MYOZ2

Linked Data

• MyVariant Identifiers: chr4:g.120107170T>G (hg19) ; chr4:g.119186015T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119186015T>G , CM000666.2:g.119186015T>G	GRCh38
NC_000004.11:g.120107170T>G , CM000666.1:g.120107170T>G	GRCh37
NC_000004.10:g.120326618T>G	NCBI36
NG_029747.1:g.55232T>G , LRG_396:g.55232T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.610T>G MANE Select	ENSP00000306997.6:p.Phe204Val
ENST00000307128.5:c.610T>G	ENSP00000306997.5:p.Phe204Val
NM_016599.4:c.610T>G , LRG_396t1:c.610T>G	NP_057683.1:p.Phe204Val
NM_016599.5:c.610T>G MANE Select	NP_057683.1:p.Phe204Val