Canonical Allele Identifier: CA358204447
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2752035
ClinVar RCV Id: RCV003587716
dbSNP Id: rs1420374400
gnomAD v2: 4-120085538-G-C
gnomAD v4: 4-119164383-G-C
MyVariant Identifiers: chr4:g.120085538G>C (hg19) chr4:g.119164383G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164383G>C , CM000666.2:g.119164383G>C GRCh38
NC_000004.11:g.120085538G>C , CM000666.1:g.120085538G>C GRCh37
NC_000004.10:g.120304986G>C NCBI36
NG_029747.1:g.33600G>C , LRG_396:g.33600G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.549G>C MANE Select ENSP00000306997.6:p.Arg183Ser
ENST00000307128.5:c.549G>C ENSP00000306997.5:p.Arg183Ser
NM_016599.4:c.549G>C , LRG_396t1:c.549G>C NP_057683.1:p.Arg183Ser
XM_006714234.2:c.549G>C XP_006714297.1:p.Arg183Ser
XM_006714234.4:c.549G>C XP_006714297.1:p.Arg183Ser
NM_016599.5:c.549G>C MANE Select NP_057683.1:p.Arg183Ser
Search 100 bp 5'
Search 100 bp 3'