Canonical Allele Identifier: CA3058522

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 227711
• ClinVar RCV Id: RCV000221382 ; RCV000625399 ; RCV000618421 ; RCV000867356 ; RCV001522619
• dbSNP Id: rs145688699
• ExAC: 4:120057719 G / A
• gnomAD v2: 4-120057719-G-A
• gnomAD v3: 4-119136564-G-A
• gnomAD v4: 4-119136564-G-A
• MyVariant Identifiers: chr4:g.120057719G>A (hg19) ; chr4:g.119136564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119136564G>A , CM000666.2:g.119136564G>A	GRCh38
NC_000004.11:g.120057719G>A , CM000666.1:g.120057719G>A	GRCh37
NC_000004.10:g.120277167G>A	NCBI36
NG_029747.1:g.5781G>A , LRG_396:g.5781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.39G>A MANE Select	ENSP00000306997.6:p.Gln13=
ENST00000307128.5:c.39G>A	ENSP00000306997.5:p.Gln13=
NM_016599.4:c.39G>A , LRG_396t1:c.39G>A	NP_057683.1:p.Gln13=
XM_006714234.2:c.39G>A	XP_006714297.1:p.Gln13=
XM_006714234.4:c.39G>A	XP_006714297.1:p.Gln13=
NM_016599.5:c.39G>A MANE Select	NP_057683.1:p.Gln13=