Canonical Allele Identifier: CA010513
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14065
dbSNP Id: rs104894368
COSMIC: COSM245869

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110919133C>T , CM000674.2:g.110919133C>T GRCh38
NC_000012.11:g.111356937C>T , CM000674.1:g.111356937C>T GRCh37
NC_000012.10:g.109841320C>T NCBI36
NG_007554.1:g.6445G>A , LRG_393:g.6445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.64G>A MANE Select ENSP00000228841.8:p.Glu22Lys
ENST00000663220.1:c.7G>A ENSP00000499568.1:p.Glu3Lys
ENST00000228841.12:c.64G>A ENSP00000228841.7:p.Glu22Lys
ENST00000546404.1:n.257G>A
ENST00000548438.1:c.64G>A ENSP00000447154.1:p.Glu22Lys
NM_000432.3:c.64G>A , LRG_393t1:c.64G>A NP_000423.2:p.Glu22Lys
NM_000432.4:c.64G>A MANE Select NP_000423.2:p.Glu22Lys