Canonical Allele Identifier: CA358201325

Gene: MYOZ2

Linked Data

• MyVariant Identifiers: chr4:g.120107121G>T (hg19) ; chr4:g.119185966G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119185966G>T , CM000666.2:g.119185966G>T	GRCh38
NC_000004.11:g.120107121G>T , CM000666.1:g.120107121G>T	GRCh37
NC_000004.10:g.120326569G>T	NCBI36
NG_029747.1:g.55183G>T , LRG_396:g.55183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.561G>T MANE Select	ENSP00000306997.6:p.Arg187Ser
ENST00000307128.5:c.561G>T	ENSP00000306997.5:p.Arg187Ser
NM_016599.4:c.561G>T , LRG_396t1:c.561G>T	NP_057683.1:p.Arg187Ser
NM_016599.5:c.561G>T MANE Select	NP_057683.1:p.Arg187Ser