Canonical Allele Identifier: CA1488811849

Gene: MYOZ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164222C= , CM000666.2:g.119164222C=	GRCh38
NC_000004.11:g.120085377C= , CM000666.1:g.120085377C=	GRCh37
NC_000004.10:g.120304825C=	NCBI36
NG_029747.1:g.33439C= , LRG_396:g.33439C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307128.6:c.388C= MANE Select	ENSP00000306997.6:p.Pro130=
ENST00000307128.5:c.388C=	ENSP00000306997.5:p.Pro130=
NM_016599.4:c.388C= , LRG_396t1:c.388C=	NP_057683.1:p.Pro130=
XM_006714234.2:c.388C=	XP_006714297.1:p.Pro130=
XM_006714234.4:c.388C=	XP_006714297.1:p.Pro130=
NM_016599.5:c.388C= MANE Select	NP_057683.1:p.Pro130=