Canonical Allele Identifier: CA3058648
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241110
ClinVar RCV Id: RCV001422805 RCV003298306
dbSNP Id: rs779726933
ExAC: 4:120085469 G / A
gnomAD v2: 4-120085469-G-A
gnomAD v3: 4-119164314-G-A
gnomAD v4: 4-119164314-G-A
MyVariant Identifiers: chr4:g.120085469G>A (hg19) chr4:g.119164314G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164314G>A , CM000666.2:g.119164314G>A GRCh38
NC_000004.11:g.120085469G>A , CM000666.1:g.120085469G>A GRCh37
NC_000004.10:g.120304917G>A NCBI36
NG_029747.1:g.33531G>A , LRG_396:g.33531G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.480G>A MANE Select ENSP00000306997.6:p.Pro160=
ENST00000307128.5:c.480G>A ENSP00000306997.5:p.Pro160=
NM_016599.4:c.480G>A , LRG_396t1:c.480G>A NP_057683.1:p.Pro160=
XM_006714234.2:c.480G>A XP_006714297.1:p.Pro160=
XM_006714234.4:c.480G>A XP_006714297.1:p.Pro160=
NM_016599.5:c.480G>A MANE Select NP_057683.1:p.Pro160=
Search 100 bp 5'
Search 100 bp 3'