Canonical Allele Identifier: CA358204216
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1177633678

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164279C>G , CM000666.2:g.119164279C>G GRCh38
NC_000004.11:g.120085434C>G , CM000666.1:g.120085434C>G GRCh37
NC_000004.10:g.120304882C>G NCBI36
NG_029747.1:g.33496C>G , LRG_396:g.33496C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.445C>G MANE Select ENSP00000306997.6:p.Gln149Glu
ENST00000307128.5:c.445C>G ENSP00000306997.5:p.Gln149Glu
NM_016599.4:c.445C>G , LRG_396t1:c.445C>G NP_057683.1:p.Gln149Glu
XM_006714234.2:c.445C>G XP_006714297.1:p.Gln149Glu
XM_006714234.4:c.445C>G XP_006714297.1:p.Gln149Glu
NM_016599.5:c.445C>G MANE Select NP_057683.1:p.Gln149Glu