Canonical Allele Identifier: CA3058624
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs750797191
ExAC: 4:120085354 A / AT
gnomAD v2: 4-120085354-A-AT
MyVariant Identifiers: chr4:g.120085354_120085355insT (hg19) chr4:g.119164199_119164200insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164204dup , CM000666.2:g.119164204dup GRCh38
NC_000004.11:g.120085359dup , CM000666.1:g.120085359dup GRCh37
NC_000004.10:g.120304807dup NCBI36
NG_029747.1:g.33421dup , LRG_396:g.33421dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-7dup MANE Select ENSP00000306997.6:n.377-7dup
ENST00000307128.5:c.377-7dup ENSP00000306997.5:n.377-7dup
NM_016599.4:c.377-7dup , LRG_396t1:c.377-7dup NP_057683.1:n.377-7dup
XM_006714234.2:c.377-7dup XP_006714297.1:n.377-7dup
XM_006714234.4:c.377-7dup XP_006714297.1:n.377-7dup
NM_016599.5:c.377-7dup MANE Select NP_057683.1:n.377-7dup
Search 100 bp 5'
Search 100 bp 3'