Canonical Allele Identifier: CA137045
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45789
ClinVar RCV Id: RCV000039016
dbSNP Id: rs397517291
gnomAD v4: 4-119150858-A-G
MyVariant Identifiers: chr4:g.120072013A>G (hg19) chr4:g.119150858A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119150858A>G , CM000666.2:g.119150858A>G GRCh38
NC_000004.11:g.120072013A>G , CM000666.1:g.120072013A>G GRCh37
NC_000004.10:g.120291461A>G NCBI36
NG_029747.1:g.20075A>G , LRG_396:g.20075A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.77-14A>G MANE Select ENSP00000306997.6:n.77-14A>G
ENST00000307128.5:c.77-14A>G ENSP00000306997.5:n.77-14A>G
NM_016599.4:c.77-14A>G , LRG_396t1:c.77-14A>G NP_057683.1:n.77-14A>G
XM_006714234.2:c.77-14A>G XP_006714297.1:n.77-14A>G
XM_006714234.4:c.77-14A>G XP_006714297.1:n.77-14A>G
XR_001741421.1:n.59T>C
NM_016599.5:c.77-14A>G MANE Select NP_057683.1:n.77-14A>G
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