Canonical Allele Identifier: CA358204323
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1313794639
gnomAD v2: 4-120085482-G-C
gnomAD v4: 4-119164327-G-C
MyVariant Identifiers: chr4:g.120085482G>C (hg19) chr4:g.119164327G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164327G>C , CM000666.2:g.119164327G>C GRCh38
NC_000004.11:g.120085482G>C , CM000666.1:g.120085482G>C GRCh37
NC_000004.10:g.120304930G>C NCBI36
NG_029747.1:g.33544G>C , LRG_396:g.33544G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.493G>C MANE Select ENSP00000306997.6:p.Ala165Pro
ENST00000307128.5:c.493G>C ENSP00000306997.5:p.Ala165Pro
NM_016599.4:c.493G>C , LRG_396t1:c.493G>C NP_057683.1:p.Ala165Pro
XM_006714234.2:c.493G>C XP_006714297.1:p.Ala165Pro
XM_006714234.4:c.493G>C XP_006714297.1:p.Ala165Pro
NM_016599.5:c.493G>C MANE Select NP_057683.1:p.Ala165Pro
Search 100 bp 5'
Search 100 bp 3'