Canonical Allele Identifier: CA2063070892
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913310C= , CM000674.2:g.110913310C= GRCh38
NC_000012.11:g.111351114C= , CM000674.1:g.111351114C= GRCh37
NC_000012.10:g.109835497C= NCBI36
NG_007554.1:g.12268G= , LRG_393:g.12268G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.289G= MANE Select ENSP00000228841.8:p.Glu97=
ENST00000663220.1:c.232G= ENSP00000499568.1:p.Glu78=
ENST00000228841.12:c.289G= ENSP00000228841.7:p.Glu97=
ENST00000548438.1:c.247G= ENSP00000447154.1:p.Glu83=
ENST00000549029.1:n.120G=
NM_000432.3:c.289G= , LRG_393t1:c.289G= NP_000423.2:p.Glu97=
NM_000432.4:c.289G= MANE Select NP_000423.2:p.Glu97=