Canonical Allele Identifier: CA1488811835
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164182T= , CM000666.2:g.119164182T= GRCh38
NC_000004.11:g.120085337T= , CM000666.1:g.120085337T= GRCh37
NC_000004.10:g.120304785T= NCBI36
NG_029747.1:g.33399T= , LRG_396:g.33399T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-29T= MANE Select ENSP00000306997.6:n.377-29T=
ENST00000307128.5:c.377-29T= ENSP00000306997.5:n.377-29T=
NM_016599.4:c.377-29T= , LRG_396t1:c.377-29T= NP_057683.1:n.377-29T=
XM_006714234.2:c.377-29T= XP_006714297.1:n.377-29T=
XM_006714234.4:c.377-29T= XP_006714297.1:n.377-29T=
NM_016599.5:c.377-29T= MANE Select NP_057683.1:n.377-29T=