Canonical Allele Identifier: CA441009778

Gene: MYOZ2

Linked Data

• MyVariant Identifiers: chr4:g.120085475T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164320T>G , CM000666.2:g.119164320T>G	GRCh38
NC_000004.11:g.120085475T>G , CM000666.1:g.120085475T>G	GRCh37
NC_000004.10:g.120304923T>G	NCBI36
NG_029747.1:g.33537T>G , LRG_396:g.33537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.486T>G MANE Select	ENSP00000306997.6:p.Leu162=
ENST00000307128.5:c.486T>G	ENSP00000306997.5:p.Leu162=
NM_016599.4:c.486T>G , LRG_396t1:c.486T>G	NP_057683.1:p.Leu162=
XM_006714234.2:c.486T>G	XP_006714297.1:p.Leu162=
XM_006714234.4:c.486T>G	XP_006714297.1:p.Leu162=
NM_016599.5:c.486T>G MANE Select	NP_057683.1:p.Leu162=