Canonical Allele Identifier: CA358204303
Gene: MYOZ2 HGNC NCBI

Linked Data

gnomAD v4: 4-119164318-C-A
MyVariant Identifiers: chr4:g.120085473C>A (hg19) chr4:g.119164318C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.484C>A MANE Select ENSP00000306997.6:p.Leu162Ile
ENST00000307128.5:c.484C>A ENSP00000306997.5:p.Leu162Ile
NM_016599.4:c.484C>A , LRG_396t1:c.484C>A NP_057683.1:p.Leu162Ile
XM_006714234.2:c.484C>A XP_006714297.1:p.Leu162Ile
XM_006714234.4:c.484C>A XP_006714297.1:p.Leu162Ile
NM_016599.5:c.484C>A MANE Select NP_057683.1:p.Leu162Ile
Search 100 bp 5'
Search 100 bp 3'