Canonical Allele Identifier: CA441009741

Gene: MYOZ2

Linked Data

• MyVariant Identifiers: chr4:g.120085409C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164254C>T , CM000666.2:g.119164254C>T	GRCh38
NC_000004.11:g.120085409C>T , CM000666.1:g.120085409C>T	GRCh37
NC_000004.10:g.120304857C>T	NCBI36
NG_029747.1:g.33471C>T , LRG_396:g.33471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.420C>T MANE Select	ENSP00000306997.6:p.Asn140=
ENST00000307128.5:c.420C>T	ENSP00000306997.5:p.Asn140=
NM_016599.4:c.420C>T , LRG_396t1:c.420C>T	NP_057683.1:p.Asn140=
XM_006714234.2:c.420C>T	XP_006714297.1:p.Asn140=
XM_006714234.4:c.420C>T	XP_006714297.1:p.Asn140=
NM_016599.5:c.420C>T MANE Select	NP_057683.1:p.Asn140=