Canonical Allele Identifier: CA358204154
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1251745987

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164250T>C , CM000666.2:g.119164250T>C GRCh38
NC_000004.11:g.120085405T>C , CM000666.1:g.120085405T>C GRCh37
NC_000004.10:g.120304853T>C NCBI36
NG_029747.1:g.33467T>C , LRG_396:g.33467T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.416T>C MANE Select ENSP00000306997.6:p.Phe139Ser
ENST00000307128.5:c.416T>C ENSP00000306997.5:p.Phe139Ser
NM_016599.4:c.416T>C , LRG_396t1:c.416T>C NP_057683.1:p.Phe139Ser
XM_006714234.2:c.416T>C XP_006714297.1:p.Phe139Ser
XM_006714234.4:c.416T>C XP_006714297.1:p.Phe139Ser
NM_016599.5:c.416T>C MANE Select NP_057683.1:p.Phe139Ser