Canonical Allele Identifier: CA1488811817
Gene: MYOZ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164157G= , CM000666.2:g.119164157G= GRCh38
NC_000004.11:g.120085312G= , CM000666.1:g.120085312G= GRCh37
NC_000004.10:g.120304760G= NCBI36
NG_029747.1:g.33374G= , LRG_396:g.33374G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-54G= MANE Select ENSP00000306997.6:n.377-54G=
ENST00000307128.5:c.377-54G= ENSP00000306997.5:n.377-54G=
NM_016599.4:c.377-54G= , LRG_396t1:c.377-54G= NP_057683.1:n.377-54G=
XM_006714234.2:c.377-54G= XP_006714297.1:n.377-54G=
XM_006714234.4:c.377-54G= XP_006714297.1:n.377-54G=
NM_016599.5:c.377-54G= MANE Select NP_057683.1:n.377-54G=
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