Canonical Allele Identifier: CA3058619
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs776902045
ExAC: 4:120085337 T / G
gnomAD v2: 4-120085337-T-G
gnomAD v3: 4-119164182-T-G
gnomAD v4: 4-119164182-T-G
MyVariant Identifiers: chr4:g.120085337T>G (hg19) chr4:g.119164182T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164182T>G , CM000666.2:g.119164182T>G GRCh38
NC_000004.11:g.120085337T>G , CM000666.1:g.120085337T>G GRCh37
NC_000004.10:g.120304785T>G NCBI36
NG_029747.1:g.33399T>G , LRG_396:g.33399T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-29T>G MANE Select ENSP00000306997.6:n.377-29T>G
ENST00000307128.5:c.377-29T>G ENSP00000306997.5:n.377-29T>G
NM_016599.4:c.377-29T>G , LRG_396t1:c.377-29T>G NP_057683.1:n.377-29T>G
XM_006714234.2:c.377-29T>G XP_006714297.1:n.377-29T>G
XM_006714234.4:c.377-29T>G XP_006714297.1:n.377-29T>G
NM_016599.5:c.377-29T>G MANE Select NP_057683.1:n.377-29T>G
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