Canonical Allele Identifier: CA010513
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14065
ClinVar RCV Id: RCV000015109 RCV000158914 RCV000234985 RCV000768488 RCV001170438 RCV002354163 RCV003421920
dbSNP Id: rs104894368
ExAC: 12:111356937 C / T
gnomAD v2: 12-111356937-C-T
gnomAD v3: 12-110919133-C-T
gnomAD v4: 12-110919133-C-T
COSMIC: COSM245869
MyVariant Identifiers: chr12:g.111356937C>T (hg19) chr12:g.110919133C>T (hg38)
PubMed: PMID:8673105 PMID:9724616 PMID:10948063 PMID:11102452 PMID:12404107 PMID:12668451 PMID:16076902 PMID:16751284 PMID:17606808 PMID:21896538 PMID:26497160 PMID:27435932
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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
Search 100 bp 5'
Search 100 bp 3'