Canonical Allele Identifier: CA1488811944
Gene: MYOZ2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164419C= , CM000666.2:g.119164419C= GRCh38
NC_000004.11:g.120085574C= , CM000666.1:g.120085574C= GRCh37
NC_000004.10:g.120305022C= NCBI36
NG_029747.1:g.33636C= , LRG_396:g.33636C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.560+25C= MANE Select ENSP00000306997.6:n.560+25C=
ENST00000307128.5:c.560+25C= ENSP00000306997.5:n.560+25C=
NM_016599.4:c.560+25C= , LRG_396t1:c.560+25C= NP_057683.1:n.560+25C=
XM_006714234.2:c.560+25C= XP_006714297.1:n.560+25C=
XM_006714234.4:c.560+25C= XP_006714297.1:n.560+25C=
NM_016599.5:c.560+25C= MANE Select NP_057683.1:n.560+25C=
Search 100 bp 5'
Search 100 bp 3'