Canonical Allele Identifier: CA358201418
Gene: MYOZ2 HGNC NCBI

Linked Data

gnomAD v4: 4-119185991-G-A
COSMIC: COSM5918465
MyVariant Identifiers: chr4:g.120107146G>A (hg19) chr4:g.119185991G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185991G>A , CM000666.2:g.119185991G>A GRCh38
NC_000004.11:g.120107146G>A , CM000666.1:g.120107146G>A GRCh37
NC_000004.10:g.120326594G>A NCBI36
NG_029747.1:g.55208G>A , LRG_396:g.55208G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.586G>A MANE Select ENSP00000306997.6:p.Glu196Lys
ENST00000307128.5:c.586G>A ENSP00000306997.5:p.Glu196Lys
NM_016599.4:c.586G>A , LRG_396t1:c.586G>A NP_057683.1:p.Glu196Lys
NM_016599.5:c.586G>A MANE Select NP_057683.1:p.Glu196Lys
Search 100 bp 5'
Search 100 bp 3'