Canonical Allele Identifier: CA2063070249
Community Standard Title: NM_000432.4(MYL2):c.358C= (p.Arg120=)
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913140G= , CM000674.2:g.110913140G= GRCh38
NC_000012.11:g.111350944G= , CM000674.1:g.111350944G= GRCh37
NC_000012.10:g.109835327G= NCBI36
NG_007554.1:g.12438C= , LRG_393:g.12438C=

Transcript Alleles

HGVS Amino-acid Change
NM_000432.4:c.358C= MANE Select NP_000423.2:p.Arg120=
ENST00000228841.15:c.358C= MANE Select ENSP00000228841.8:p.Arg120=
NM_000432.3:c.358C= , LRG_393t1:c.358C= NP_000423.2:p.Arg120=
ENST00000228841.12:c.358C= ENSP00000228841.7:p.Arg120=
ENST00000548438.1:c.316C= ENSP00000447154.1:p.Arg106=
ENST00000549029.1:n.290C=
ENST00000663220.1:c.301C= ENSP00000499568.1:p.Arg101=