Canonical Allele Identifier: CA358204229
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1207173141
gnomAD v2: 4-120085440-C-T
gnomAD v4: 4-119164285-C-T
COSMIC: COSM3599541
MyVariant Identifiers: chr4:g.120085440C>T (hg19) chr4:g.119164285C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164285C>T , CM000666.2:g.119164285C>T GRCh38
NC_000004.11:g.120085440C>T , CM000666.1:g.120085440C>T GRCh37
NC_000004.10:g.120304888C>T NCBI36
NG_029747.1:g.33502C>T , LRG_396:g.33502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.451C>T MANE Select ENSP00000306997.6:p.Pro151Ser
ENST00000307128.5:c.451C>T ENSP00000306997.5:p.Pro151Ser
NM_016599.4:c.451C>T , LRG_396t1:c.451C>T NP_057683.1:p.Pro151Ser
XM_006714234.2:c.451C>T XP_006714297.1:p.Pro151Ser
XM_006714234.4:c.451C>T XP_006714297.1:p.Pro151Ser
NM_016599.5:c.451C>T MANE Select NP_057683.1:p.Pro151Ser
Search 100 bp 5'
Search 100 bp 3'