Canonical Allele Identifier: CA292406

Gene: MYOZ2

Linked Data

• ClinVar Variation Id: 138409
• ClinVar RCV Id: RCV000127066 ; RCV000625400 ; RCV000587354 ; RCV002055694
• dbSNP Id: rs77591499
• ExAC: 4:120057775 C / T
• gnomAD v2: 4-120057775-C-T
• gnomAD v3: 4-119136620-C-T
• gnomAD v4: 4-119136620-C-T
• MyVariant Identifiers: chr4:g.120057775C>T (hg19) ; chr4:g.119136620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119136620C>T , CM000666.2:g.119136620C>T	GRCh38
NC_000004.11:g.120057775C>T , CM000666.1:g.120057775C>T	GRCh37
NC_000004.10:g.120277223C>T	NCBI36
NG_029747.1:g.5837C>T , LRG_396:g.5837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.76+19C>T MANE Select	ENSP00000306997.6:n.76+19C>T
ENST00000307128.5:c.76+19C>T	ENSP00000306997.5:n.76+19C>T
NM_016599.4:c.76+19C>T , LRG_396t1:c.76+19C>T	NP_057683.1:n.76+19C>T
XM_006714234.2:c.76+19C>T	XP_006714297.1:n.76+19C>T
XM_006714234.4:c.76+19C>T	XP_006714297.1:n.76+19C>T
NM_016599.5:c.76+19C>T MANE Select	NP_057683.1:n.76+19C>T