Canonical Allele Identifier: CA321364

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 213655
• ClinVar RCV Id: RCV000196942 ; RCV000458464 ; RCV000623809 ; RCV000625133 ; RCV002336531
• dbSNP Id: rs200791464
• ExAC: 4:120085468 C / T
• gnomAD v2: 4-120085468-C-T
• gnomAD v3: 4-119164313-C-T
• gnomAD v4: 4-119164313-C-T
• MyVariant Identifiers: chr4:g.120085468C>T (hg19) ; chr4:g.119164313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164313C>T , CM000666.2:g.119164313C>T	GRCh38
NC_000004.11:g.120085468C>T , CM000666.1:g.120085468C>T	GRCh37
NC_000004.10:g.120304916C>T	NCBI36
NG_029747.1:g.33530C>T , LRG_396:g.33530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.479C>T MANE Select	ENSP00000306997.6:p.Pro160Leu
ENST00000307128.5:c.479C>T	ENSP00000306997.5:p.Pro160Leu
NM_016599.4:c.479C>T , LRG_396t1:c.479C>T	NP_057683.1:p.Pro160Leu
XM_006714234.2:c.479C>T	XP_006714297.1:p.Pro160Leu
XM_006714234.4:c.479C>T	XP_006714297.1:p.Pro160Leu
NM_016599.5:c.479C>T MANE Select	NP_057683.1:p.Pro160Leu