Canonical Allele Identifier: CA441009718
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1578738374
MyVariant Identifiers: chr4:g.120085379A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164224A>C , CM000666.2:g.119164224A>C GRCh38
NC_000004.11:g.120085379A>C , CM000666.1:g.120085379A>C GRCh37
NC_000004.10:g.120304827A>C NCBI36
NG_029747.1:g.33441A>C , LRG_396:g.33441A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.390A>C MANE Select ENSP00000306997.6:p.Pro130=
ENST00000307128.5:c.390A>C ENSP00000306997.5:p.Pro130=
NM_016599.4:c.390A>C , LRG_396t1:c.390A>C NP_057683.1:p.Pro130=
XM_006714234.2:c.390A>C XP_006714297.1:p.Pro130=
XM_006714234.4:c.390A>C XP_006714297.1:p.Pro130=
NM_016599.5:c.390A>C MANE Select NP_057683.1:p.Pro130=
Search 100 bp 5'
Search 100 bp 3'