Canonical Allele Identifier: CA358204418
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1741777795
MyVariant Identifiers: chr4:g.120085524C>G (hg19) chr4:g.119164369C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164369C>G , CM000666.2:g.119164369C>G GRCh38
NC_000004.11:g.120085524C>G , CM000666.1:g.120085524C>G GRCh37
NC_000004.10:g.120304972C>G NCBI36
NG_029747.1:g.33586C>G , LRG_396:g.33586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.535C>G MANE Select ENSP00000306997.6:p.Leu179Val
ENST00000307128.5:c.535C>G ENSP00000306997.5:p.Leu179Val
NM_016599.4:c.535C>G , LRG_396t1:c.535C>G NP_057683.1:p.Leu179Val
XM_006714234.2:c.535C>G XP_006714297.1:p.Leu179Val
XM_006714234.4:c.535C>G XP_006714297.1:p.Leu179Val
NM_016599.5:c.535C>G MANE Select NP_057683.1:p.Leu179Val
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