Canonical Allele Identifier: CA358203246
Gene: MYOZ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119136556A>G , CM000666.2:g.119136556A>G GRCh38
NC_000004.11:g.120057711A>G , CM000666.1:g.120057711A>G GRCh37
NC_000004.10:g.120277159A>G NCBI36
NG_029747.1:g.5773A>G , LRG_396:g.5773A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.31A>G MANE Select ENSP00000306997.6:p.Arg11Gly
ENST00000307128.5:c.31A>G ENSP00000306997.5:p.Arg11Gly
NM_016599.4:c.31A>G , LRG_396t1:c.31A>G NP_057683.1:p.Arg11Gly
XM_006714234.2:c.31A>G XP_006714297.1:p.Arg11Gly
XM_006714234.4:c.31A>G XP_006714297.1:p.Arg11Gly
NM_016599.5:c.31A>G MANE Select NP_057683.1:p.Arg11Gly