Canonical Allele Identifier: CA358202031
Gene: MYOZ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119186055C>T , CM000666.2:g.119186055C>T GRCh38
NC_000004.11:g.120107210C>T , CM000666.1:g.120107210C>T GRCh37
NC_000004.10:g.120326658C>T NCBI36
NG_029747.1:g.55272C>T , LRG_396:g.55272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.650C>T MANE Select ENSP00000306997.6:p.Pro217Leu
ENST00000307128.5:c.650C>T ENSP00000306997.5:p.Pro217Leu
NM_016599.4:c.650C>T , LRG_396t1:c.650C>T NP_057683.1:p.Pro217Leu
NM_016599.5:c.650C>T MANE Select NP_057683.1:p.Pro217Leu