Canonical Allele Identifier: CA441009754
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1578738433
MyVariant Identifiers: chr4:g.120085421C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164266C>T , CM000666.2:g.119164266C>T GRCh38
NC_000004.11:g.120085421C>T , CM000666.1:g.120085421C>T GRCh37
NC_000004.10:g.120304869C>T NCBI36
NG_029747.1:g.33483C>T , LRG_396:g.33483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.432C>T MANE Select ENSP00000306997.6:p.Val144=
ENST00000307128.5:c.432C>T ENSP00000306997.5:p.Val144=
NM_016599.4:c.432C>T , LRG_396t1:c.432C>T NP_057683.1:p.Val144=
XM_006714234.2:c.432C>T XP_006714297.1:p.Val144=
XM_006714234.4:c.432C>T XP_006714297.1:p.Val144=
NM_016599.5:c.432C>T MANE Select NP_057683.1:p.Val144=
Search 100 bp 5'
Search 100 bp 3'