Canonical Allele Identifier: CA441001762
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1578374244
MyVariant Identifiers: chr4:g.120107130A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185975A>T , CM000666.2:g.119185975A>T GRCh38
NC_000004.11:g.120107130A>T , CM000666.1:g.120107130A>T GRCh37
NC_000004.10:g.120326578A>T NCBI36
NG_029747.1:g.55192A>T , LRG_396:g.55192A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.570A>T MANE Select ENSP00000306997.6:p.Thr190=
ENST00000307128.5:c.570A>T ENSP00000306997.5:p.Thr190=
NM_016599.4:c.570A>T , LRG_396t1:c.570A>T NP_057683.1:p.Thr190=
NM_016599.5:c.570A>T MANE Select NP_057683.1:p.Thr190=
Search 100 bp 5'
Search 100 bp 3'