Canonical Allele Identifier: CA2671884431
Gene: MYOZ2 HGNC NCBI

Linked Data

gnomAD v4: 4-119164188-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164188A>G , CM000666.2:g.119164188A>G GRCh38
NC_000004.11:g.120085343A>G , CM000666.1:g.120085343A>G GRCh37
NC_000004.10:g.120304791A>G NCBI36
NG_029747.1:g.33405A>G , LRG_396:g.33405A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-23A>G MANE Select ENSP00000306997.6:n.377-23A>G
ENST00000307128.5:c.377-23A>G ENSP00000306997.5:n.377-23A>G
NM_016599.4:c.377-23A>G , LRG_396t1:c.377-23A>G NP_057683.1:n.377-23A>G
XM_006714234.2:c.377-23A>G XP_006714297.1:n.377-23A>G
XM_006714234.4:c.377-23A>G XP_006714297.1:n.377-23A>G
NM_016599.5:c.377-23A>G MANE Select NP_057683.1:n.377-23A>G
Search 100 bp 5'
Search 100 bp 3'