Canonical Allele Identifier: CA215278

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 31786
• ClinVar RCV Id: RCV000024479 ; RCV000039009 ; RCV000247372 ; RCV000315825 ; RCV000625401
• dbSNP Id: rs7687613
• ExAC: 4:120085448 A / G
• gnomAD v2: 4-120085448-A-G
• gnomAD v3: 4-119164293-A-G
• gnomAD v4: 4-119164293-A-G
• MyVariant Identifiers: chr4:g.120085448A>G (hg19) ; chr4:g.119164293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164293A>G , CM000666.2:g.119164293A>G	GRCh38
NC_000004.11:g.120085448A>G , CM000666.1:g.120085448A>G	GRCh37
NC_000004.10:g.120304896A>G	NCBI36
NG_029747.1:g.33510A>G , LRG_396:g.33510A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.459A>G MANE Select	ENSP00000306997.6:p.Glu153=
ENST00000307128.5:c.459A>G	ENSP00000306997.5:p.Glu153=
NM_016599.4:c.459A>G , LRG_396t1:c.459A>G	NP_057683.1:p.Glu153=
XM_006714234.2:c.459A>G	XP_006714297.1:p.Glu153=
XM_006714234.4:c.459A>G	XP_006714297.1:p.Glu153=
NM_016599.5:c.459A>G MANE Select	NP_057683.1:p.Glu153=