Canonical Allele Identifier: CA554379444
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1317619120
gnomAD v2: 4-120107047-A-AATTATGAAATTGTTTTCT
gnomAD v3: 4-119185892-A-AATTATGAAATTGTTTTCT
gnomAD v4: 4-119185892-A-AATTATGAAATTGTTTTCT
MyVariant Identifiers: chr4:g.120107047_120107048insATTATGAAATTGTTTTCT (hg19) chr4:g.119185892_119185893insATTATGAAATTGTTTTCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185896_119185913dup , CM000666.2:g.119185896_119185913dup GRCh38
NC_000004.11:g.120107051_120107068dup , CM000666.1:g.120107051_120107068dup GRCh37
NC_000004.10:g.120326499_120326516dup NCBI36
NG_029747.1:g.55113_55130dup , LRG_396:g.55113_55130dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-70_561-53dup MANE Select ENSP00000306997.6:n.561-70_561-53dup
ENST00000307128.5:c.561-70_561-53dup ENSP00000306997.5:n.561-70_561-53dup
NM_016599.4:c.561-70_561-53dup , LRG_396t1:c.561-70_561-53dup NP_057683.1:n.561-70_561-53dup
NM_016599.5:c.561-70_561-53dup MANE Select NP_057683.1:n.561-70_561-53dup
Search 100 bp 5'
Search 100 bp 3'