Canonical Allele Identifier: CA441009715

Gene: MYOZ2

Linked Data

• dbSNP Id: rs1396549933
• gnomAD v2: 4-120085376-A-T
• MyVariant Identifiers: chr4:g.120085376A>T (hg19) ; chr4:g.119164221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164221A>T , CM000666.2:g.119164221A>T	GRCh38
NC_000004.11:g.120085376A>T , CM000666.1:g.120085376A>T	GRCh37
NC_000004.10:g.120304824A>T	NCBI36
NG_029747.1:g.33438A>T , LRG_396:g.33438A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307128.6:c.387A>T MANE Select	ENSP00000306997.6:p.Gly129=
ENST00000307128.5:c.387A>T	ENSP00000306997.5:p.Gly129=
NM_016599.4:c.387A>T , LRG_396t1:c.387A>T	NP_057683.1:p.Gly129=
XM_006714234.2:c.387A>T	XP_006714297.1:p.Gly129=
XM_006714234.4:c.387A>T	XP_006714297.1:p.Gly129=
NM_016599.5:c.387A>T MANE Select	NP_057683.1:p.Gly129=