Canonical Allele Identifier: CA1488811827
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164171G= , CM000666.2:g.119164171G= GRCh38
NC_000004.11:g.120085326G= , CM000666.1:g.120085326G= GRCh37
NC_000004.10:g.120304774G= NCBI36
NG_029747.1:g.33388G= , LRG_396:g.33388G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-40G= MANE Select ENSP00000306997.6:n.377-40G=
ENST00000307128.5:c.377-40G= ENSP00000306997.5:n.377-40G=
NM_016599.4:c.377-40G= , LRG_396t1:c.377-40G= NP_057683.1:n.377-40G=
XM_006714234.2:c.377-40G= XP_006714297.1:n.377-40G=
XM_006714234.4:c.377-40G= XP_006714297.1:n.377-40G=
NM_016599.5:c.377-40G= MANE Select NP_057683.1:n.377-40G=