Canonical Allele Identifier: CA358204429

Gene: MYOZ2

Linked Data

• gnomAD v4: 4-119164375-G-T
• MyVariant Identifiers: chr4:g.120085530G>T (hg19) ; chr4:g.119164375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164375G>T , CM000666.2:g.119164375G>T	GRCh38
NC_000004.11:g.120085530G>T , CM000666.1:g.120085530G>T	GRCh37
NC_000004.10:g.120304978G>T	NCBI36
NG_029747.1:g.33592G>T , LRG_396:g.33592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.541G>T MANE Select	ENSP00000306997.6:p.Asp181Tyr
ENST00000307128.5:c.541G>T	ENSP00000306997.5:p.Asp181Tyr
NM_016599.4:c.541G>T , LRG_396t1:c.541G>T	NP_057683.1:p.Asp181Tyr
XM_006714234.2:c.541G>T	XP_006714297.1:p.Asp181Tyr
XM_006714234.4:c.541G>T	XP_006714297.1:p.Asp181Tyr
NM_016599.5:c.541G>T MANE Select	NP_057683.1:p.Asp181Tyr