Canonical Allele Identifier: CA358204302
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120085472G>T (hg19) chr4:g.119164317G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164317G>T , CM000666.2:g.119164317G>T GRCh38
NC_000004.11:g.120085472G>T , CM000666.1:g.120085472G>T GRCh37
NC_000004.10:g.120304920G>T NCBI36
NG_029747.1:g.33534G>T , LRG_396:g.33534G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.483G>T MANE Select ENSP00000306997.6:p.Glu161Asp
ENST00000307128.5:c.483G>T ENSP00000306997.5:p.Glu161Asp
NM_016599.4:c.483G>T , LRG_396t1:c.483G>T NP_057683.1:p.Glu161Asp
XM_006714234.2:c.483G>T XP_006714297.1:p.Glu161Asp
XM_006714234.4:c.483G>T XP_006714297.1:p.Glu161Asp
NM_016599.5:c.483G>T MANE Select NP_057683.1:p.Glu161Asp
Search 100 bp 5'
Search 100 bp 3'