Canonical Allele Identifier: CA1488821425
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185900A= , CM000666.2:g.119185900A= GRCh38
NC_000004.11:g.120107055A= , CM000666.1:g.120107055A= GRCh37
NC_000004.10:g.120326503A= NCBI36
NG_029747.1:g.55117A= , LRG_396:g.55117A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-66A= MANE Select ENSP00000306997.6:n.561-66A=
ENST00000307128.5:c.561-66A= ENSP00000306997.5:n.561-66A=
NM_016599.4:c.561-66A= , LRG_396t1:c.561-66A= NP_057683.1:n.561-66A=
NM_016599.5:c.561-66A= MANE Select NP_057683.1:n.561-66A=