Canonical Allele Identifier: CA1067265463

Gene: MYOZ2

Linked Data

• dbSNP Id: rs534363921
• gnomAD v3: 4-119164158-G-T
• gnomAD v4: 4-119164158-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164158G>T , CM000666.2:g.119164158G>T	GRCh38
NC_000004.11:g.120085313G>T , CM000666.1:g.120085313G>T	GRCh37
NC_000004.10:g.120304761G>T	NCBI36
NG_029747.1:g.33375G>T , LRG_396:g.33375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.377-53G>T MANE Select	ENSP00000306997.6:n.377-53G>T
ENST00000307128.5:c.377-53G>T	ENSP00000306997.5:n.377-53G>T
NM_016599.4:c.377-53G>T , LRG_396t1:c.377-53G>T	NP_057683.1:n.377-53G>T
XM_006714234.2:c.377-53G>T	XP_006714297.1:n.377-53G>T
XM_006714234.4:c.377-53G>T	XP_006714297.1:n.377-53G>T
NM_016599.5:c.377-53G>T MANE Select	NP_057683.1:n.377-53G>T