Canonical Allele Identifier: CA010488
Gene: MYL2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14068
dbSNP Id: rs104894370

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110919145A>G , CM000674.2:g.110919145A>G GRCh38
NC_000012.11:g.111356949A>G , CM000674.1:g.111356949A>G GRCh37
NC_000012.10:g.109841332A>G NCBI36
NG_007554.1:g.6433T>C , LRG_393:g.6433T>C

Transcript Alleles

HGVS Amino-acid change
NM_000432.3:c.52T>C , LRG_393t1:c.52T>C NP_000423.2:p.Phe18Leu
ENST00000228841.12:c.52T>C ENSP00000228841.7:p.Phe18Leu
ENST00000546404.1:n.245T>C
ENST00000548438.1:c.52T>C ENSP00000447154.1:p.Phe18Leu