Canonical Allele Identifier: CA1488811947
Gene: MYOZ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164426C= , CM000666.2:g.119164426C= GRCh38
NC_000004.11:g.120085581C= , CM000666.1:g.120085581C= GRCh37
NC_000004.10:g.120305029C= NCBI36
NG_029747.1:g.33643C= , LRG_396:g.33643C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.560+32C= MANE Select ENSP00000306997.6:n.560+32C=
ENST00000307128.5:c.560+32C= ENSP00000306997.5:n.560+32C=
NM_016599.4:c.560+32C= , LRG_396t1:c.560+32C= NP_057683.1:n.560+32C=
XM_006714234.2:c.560+32C= XP_006714297.1:n.560+32C=
XM_006714234.4:c.560+32C= XP_006714297.1:n.560+32C=
NM_016599.5:c.560+32C= MANE Select NP_057683.1:n.560+32C=
Search 100 bp 5'
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