Canonical Allele Identifier: CA282610

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 45778
• ClinVar RCV Id: RCV000039002 ; RCV000625398 ; RCV000590300 ; RCV000619179 ; RCV000769183
• dbSNP Id: rs397517288
• ExAC: 4:120057671 C / CA
• gnomAD v2: 4-120057671-C-CA
• gnomAD v3: 4-119136516-C-CA
• gnomAD v4: 4-119136516-C-CA
• MyVariant Identifiers: chr4:g.120057672_120057673insA (hg19) ; chr4:g.120057671_120057672insA (hg19) ; chr4:g.119136523dupA (hg38) ; chr4:g.119136517_119136518insA (hg38) ; chr4:g.119136516_119136517insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119136523dup , CM000666.2:g.119136523dup	GRCh38
NC_000004.11:g.120057678dup , CM000666.1:g.120057678dup	GRCh37
NC_000004.10:g.120277126dup	NCBI36
NG_029747.1:g.5740dup , LRG_396:g.5740dup

Transcript Alleles

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