Canonical Allele Identifier: CA2671884589
Gene: MYOZ2 HGNC NCBI

Linked Data

gnomAD v4: 4-119185963-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185963C>A , CM000666.2:g.119185963C>A GRCh38
NC_000004.11:g.120107118C>A , CM000666.1:g.120107118C>A GRCh37
NC_000004.10:g.120326566C>A NCBI36
NG_029747.1:g.55180C>A , LRG_396:g.55180C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-3C>A MANE Select ENSP00000306997.6:n.561-3C>A
ENST00000307128.5:c.561-3C>A ENSP00000306997.5:n.561-3C>A
NM_016599.4:c.561-3C>A , LRG_396t1:c.561-3C>A NP_057683.1:n.561-3C>A
NM_016599.5:c.561-3C>A MANE Select NP_057683.1:n.561-3C>A
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