Canonical Allele Identifier: CA010513

Gene: MYL2

Linked Data

• ClinVar Variation Id: 14065
• ClinVar RCV Id: RCV000015109 ; RCV000158914 ; RCV000234985 ; RCV000768488 ; RCV001170438 ; RCV002354163 ; RCV004532354
• 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

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