Canonical Allele Identifier: CA3058566

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 227709
• ClinVar RCV Id: RCV000214117 ; RCV000831515 ; RCV001084581 ; RCV001170134 ; RCV002453763
• dbSNP Id: rs149125238
• ExAC: 4:120072195 A / C
• gnomAD v2: 4-120072195-A-C
• gnomAD v3: 4-119151040-A-C
• gnomAD v4: 4-119151040-A-C
• MyVariant Identifiers: chr4:g.120072195A>C (hg19) ; chr4:g.119151040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119151040A>C , CM000666.2:g.119151040A>C	GRCh38
NC_000004.11:g.120072195A>C , CM000666.1:g.120072195A>C	GRCh37
NC_000004.10:g.120291643A>C	NCBI36
NG_029747.1:g.20257A>C , LRG_396:g.20257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.245A>C MANE Select	ENSP00000306997.6:p.Asn82Thr
ENST00000307128.5:c.245A>C	ENSP00000306997.5:p.Asn82Thr
NM_016599.4:c.245A>C , LRG_396t1:c.245A>C	NP_057683.1:p.Asn82Thr
XM_006714234.2:c.245A>C	XP_006714297.1:p.Asn82Thr
XM_006714234.4:c.245A>C	XP_006714297.1:p.Asn82Thr
NM_016599.5:c.245A>C MANE Select	NP_057683.1:p.Asn82Thr