Canonical Allele Identifier: CA1488811884
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164288T= , CM000666.2:g.119164288T= GRCh38
NC_000004.11:g.120085443T= , CM000666.1:g.120085443T= GRCh37
NC_000004.10:g.120304891T= NCBI36
NG_029747.1:g.33505T= , LRG_396:g.33505T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.454T= MANE Select ENSP00000306997.6:p.Trp152=
ENST00000307128.5:c.454T= ENSP00000306997.5:p.Trp152=
NM_016599.4:c.454T= , LRG_396t1:c.454T= NP_057683.1:p.Trp152=
XM_006714234.2:c.454T= XP_006714297.1:p.Trp152=
XM_006714234.4:c.454T= XP_006714297.1:p.Trp152=
NM_016599.5:c.454T= MANE Select NP_057683.1:p.Trp152=