Canonical Allele Identifier: CA2671884414
Gene: MYOZ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164138T>A , CM000666.2:g.119164138T>A GRCh38
NC_000004.11:g.120085293T>A , CM000666.1:g.120085293T>A GRCh37
NC_000004.10:g.120304741T>A NCBI36
NG_029747.1:g.33355T>A , LRG_396:g.33355T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-73T>A MANE Select ENSP00000306997.6:n.377-73T>A
ENST00000307128.5:c.377-73T>A ENSP00000306997.5:n.377-73T>A
NM_016599.4:c.377-73T>A , LRG_396t1:c.377-73T>A NP_057683.1:n.377-73T>A
XM_006714234.2:c.377-73T>A XP_006714297.1:n.377-73T>A
XM_006714234.4:c.377-73T>A XP_006714297.1:n.377-73T>A
NM_016599.5:c.377-73T>A MANE Select NP_057683.1:n.377-73T>A