Canonical Allele Identifier: CA554379484

Gene: MYOZ2

Linked Data

• gnomAD v2: 4-120107110-A-ATTTTT
• MyVariant Identifiers: chr4:g.120107110_120107111insTTTTT (hg19) ; chr4:g.119185955_119185956insTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119185958_119185959insTTTTT , CM000666.2:g.119185958_119185959insTTTTT	GRCh38
NC_000004.11:g.120107113_120107114insTTTTT , CM000666.1:g.120107113_120107114insTTTTT	GRCh37
NC_000004.10:g.120326561_120326562insTTTTT	NCBI36
NG_029747.1:g.55175_55176insTTTTT , LRG_396:g.55175_55176insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.561-8_561-7insTTTTT MANE Select	ENSP00000306997.6:n.561-8_561-7insTTTTT
ENST00000307128.5:c.561-8_561-7insTTTTT	ENSP00000306997.5:n.561-8_561-7insTTTTT
NM_016599.4:c.561-8_561-7insTTTTT , LRG_396t1:c.561-8_561-7insTTTTT	NP_057683.1:n.561-8_561-7insTTTTT
NM_016599.5:c.561-8_561-7insTTTTT MANE Select	NP_057683.1:n.561-8_561-7insTTTTT