Canonical Allele Identifier: CA358204409
Gene: MYOZ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164366G>A , CM000666.2:g.119164366G>A GRCh38
NC_000004.11:g.120085521G>A , CM000666.1:g.120085521G>A GRCh37
NC_000004.10:g.120304969G>A NCBI36
NG_029747.1:g.33583G>A , LRG_396:g.33583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.532G>A MANE Select ENSP00000306997.6:p.Glu178Lys
ENST00000307128.5:c.532G>A ENSP00000306997.5:p.Glu178Lys
NM_016599.4:c.532G>A , LRG_396t1:c.532G>A NP_057683.1:p.Glu178Lys
XM_006714234.2:c.532G>A XP_006714297.1:p.Glu178Lys
XM_006714234.4:c.532G>A XP_006714297.1:p.Glu178Lys
NM_016599.5:c.532G>A MANE Select NP_057683.1:p.Glu178Lys