Canonical Allele Identifier: CA358204296
Gene: MYOZ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.120085470G>C (hg19) chr4:g.119164315G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164315G>C , CM000666.2:g.119164315G>C GRCh38
NC_000004.11:g.120085470G>C , CM000666.1:g.120085470G>C GRCh37
NC_000004.10:g.120304918G>C NCBI36
NG_029747.1:g.33532G>C , LRG_396:g.33532G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.481G>C MANE Select ENSP00000306997.6:p.Glu161Gln
ENST00000307128.5:c.481G>C ENSP00000306997.5:p.Glu161Gln
NM_016599.4:c.481G>C , LRG_396t1:c.481G>C NP_057683.1:p.Glu161Gln
XM_006714234.2:c.481G>C XP_006714297.1:p.Glu161Gln
XM_006714234.4:c.481G>C XP_006714297.1:p.Glu161Gln
NM_016599.5:c.481G>C MANE Select NP_057683.1:p.Glu161Gln
Search 100 bp 5'
Search 100 bp 3'