Canonical Allele Identifier: CA358204304
Gene: MYOZ2 HGNC NCBI

Linked Data

COSMIC: COSM4496877
MyVariant Identifiers: chr4:g.120085473C>T (hg19) chr4:g.119164318C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164318C>T , CM000666.2:g.119164318C>T GRCh38
NC_000004.11:g.120085473C>T , CM000666.1:g.120085473C>T GRCh37
NC_000004.10:g.120304921C>T NCBI36
NG_029747.1:g.33535C>T , LRG_396:g.33535C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.484C>T MANE Select ENSP00000306997.6:p.Leu162Phe
ENST00000307128.5:c.484C>T ENSP00000306997.5:p.Leu162Phe
NM_016599.4:c.484C>T , LRG_396t1:c.484C>T NP_057683.1:p.Leu162Phe
XM_006714234.2:c.484C>T XP_006714297.1:p.Leu162Phe
XM_006714234.4:c.484C>T XP_006714297.1:p.Leu162Phe
NM_016599.5:c.484C>T MANE Select NP_057683.1:p.Leu162Phe
Search 100 bp 5'
Search 100 bp 3'