Canonical Allele Identifier: CA358204094
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1741769924
gnomAD v3: 4-119164222-C-A
gnomAD v4: 4-119164222-C-A
MyVariant Identifiers: chr4:g.120085377C>A (hg19) chr4:g.119164222C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164222C>A , CM000666.2:g.119164222C>A GRCh38
NC_000004.11:g.120085377C>A , CM000666.1:g.120085377C>A GRCh37
NC_000004.10:g.120304825C>A NCBI36
NG_029747.1:g.33439C>A , LRG_396:g.33439C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.388C>A MANE Select ENSP00000306997.6:p.Pro130Thr
ENST00000307128.5:c.388C>A ENSP00000306997.5:p.Pro130Thr
NM_016599.4:c.388C>A , LRG_396t1:c.388C>A NP_057683.1:p.Pro130Thr
XM_006714234.2:c.388C>A XP_006714297.1:p.Pro130Thr
XM_006714234.4:c.388C>A XP_006714297.1:p.Pro130Thr
NM_016599.5:c.388C>A MANE Select NP_057683.1:p.Pro130Thr
Search 100 bp 5'
Search 100 bp 3'