Canonical Allele Identifier: CA358201355
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120107128A>G (hg19) chr4:g.119185973A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185973A>G , CM000666.2:g.119185973A>G GRCh38
NC_000004.11:g.120107128A>G , CM000666.1:g.120107128A>G GRCh37
NC_000004.10:g.120326576A>G NCBI36
NG_029747.1:g.55190A>G , LRG_396:g.55190A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.568A>G MANE Select ENSP00000306997.6:p.Thr190Ala
ENST00000307128.5:c.568A>G ENSP00000306997.5:p.Thr190Ala
NM_016599.4:c.568A>G , LRG_396t1:c.568A>G NP_057683.1:p.Thr190Ala
NM_016599.5:c.568A>G MANE Select NP_057683.1:p.Thr190Ala
Search 100 bp 5'
Search 100 bp 3'