Canonical Allele Identifier: CA137037

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 45779
• ClinVar RCV Id: RCV000039003 ; RCV001070182 ; RCV001170131 ; RCV002408523
• dbSNP Id: rs397517289
• ExAC: 4:120057697 C / G
• gnomAD v2: 4-120057697-C-G
• gnomAD v3: 4-119136542-C-G
• gnomAD v4: 4-119136542-C-G
• MyVariant Identifiers: chr4:g.120057697C>G (hg19) ; chr4:g.119136542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119136542C>G , CM000666.2:g.119136542C>G	GRCh38
NC_000004.11:g.120057697C>G , CM000666.1:g.120057697C>G	GRCh37
NC_000004.10:g.120277145C>G	NCBI36
NG_029747.1:g.5759C>G , LRG_396:g.5759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.17C>G MANE Select	ENSP00000306997.6:p.Thr6Ser
ENST00000307128.5:c.17C>G	ENSP00000306997.5:p.Thr6Ser
NM_016599.4:c.17C>G , LRG_396t1:c.17C>G	NP_057683.1:p.Thr6Ser
XM_006714234.2:c.17C>G	XP_006714297.1:p.Thr6Ser
XM_006714234.4:c.17C>G	XP_006714297.1:p.Thr6Ser
NM_016599.5:c.17C>G MANE Select	NP_057683.1:p.Thr6Ser