Canonical Allele Identifier: CA2763273740
Gene: MYOZ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164130dup , CM000666.2:g.119164130dup GRCh38
NC_000004.11:g.120085285dup , CM000666.1:g.120085285dup GRCh37
NC_000004.10:g.120304733dup NCBI36
NG_029747.1:g.33347dup , LRG_396:g.33347dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-81dup MANE Select ENSP00000306997.6:n.377-81dup
ENST00000307128.5:c.377-81dup ENSP00000306997.5:n.377-81dup
NM_016599.4:c.377-81dup , LRG_396t1:c.377-81dup NP_057683.1:n.377-81dup
XM_006714234.2:c.377-81dup XP_006714297.1:n.377-81dup
XM_006714234.4:c.377-81dup XP_006714297.1:n.377-81dup
NM_016599.5:c.377-81dup MANE Select NP_057683.1:n.377-81dup