Canonical Allele Identifier: CA358204318
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120085480A>G (hg19) chr4:g.119164325A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164325A>G , CM000666.2:g.119164325A>G GRCh38
NC_000004.11:g.120085480A>G , CM000666.1:g.120085480A>G GRCh37
NC_000004.10:g.120304928A>G NCBI36
NG_029747.1:g.33542A>G , LRG_396:g.33542A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.491A>G MANE Select ENSP00000306997.6:p.Glu164Gly
ENST00000307128.5:c.491A>G ENSP00000306997.5:p.Glu164Gly
NM_016599.4:c.491A>G , LRG_396t1:c.491A>G NP_057683.1:p.Glu164Gly
XM_006714234.2:c.491A>G XP_006714297.1:p.Glu164Gly
XM_006714234.4:c.491A>G XP_006714297.1:p.Glu164Gly
NM_016599.5:c.491A>G MANE Select NP_057683.1:p.Glu164Gly
Search 100 bp 5'
Search 100 bp 3'