Canonical Allele Identifier: CA1488811809
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1741766942
gnomAD v4: 4-119164125-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164130del , CM000666.2:g.119164130del GRCh38
NC_000004.11:g.120085285del , CM000666.1:g.120085285del GRCh37
NC_000004.10:g.120304733del NCBI36
NG_029747.1:g.33347del , LRG_396:g.33347del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-81del MANE Select ENSP00000306997.6:n.377-81del
ENST00000307128.5:c.377-81del ENSP00000306997.5:n.377-81del
NM_016599.4:c.377-81del , LRG_396t1:c.377-81del NP_057683.1:n.377-81del
XM_006714234.2:c.377-81del XP_006714297.1:n.377-81del
XM_006714234.4:c.377-81del XP_006714297.1:n.377-81del
NM_016599.5:c.377-81del MANE Select NP_057683.1:n.377-81del
Search 100 bp 5'
Search 100 bp 3'