Canonical Allele Identifier: CA1488821459
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185975A= , CM000666.2:g.119185975A= GRCh38
NC_000004.11:g.120107130A= , CM000666.1:g.120107130A= GRCh37
NC_000004.10:g.120326578A= NCBI36
NG_029747.1:g.55192A= , LRG_396:g.55192A=

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.570A= MANE Select ENSP00000306997.6:p.Thr190=
ENST00000307128.5:c.570A= ENSP00000306997.5:p.Thr190=
NM_016599.4:c.570A= , LRG_396t1:c.570A= NP_057683.1:p.Thr190=
NM_016599.5:c.570A= MANE Select NP_057683.1:p.Thr190=