Canonical Allele Identifier: CA292406
Gene: MYOZ2 HGNC NCBI

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)
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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
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