Canonical Allele Identifier: CA010431

Gene: MYL2

Linked Data

• ClinVar Variation Id: 132976
• ClinVar RCV Id: RCV000119380 ; RCV000156897 ; RCV000627045 ; RCV000226326
• dbSNP Id: rs199474814
• gnomAD v4: 12-110911094-C-T
• COSMIC: COSM1216267
• MyVariant Identifiers: chr12:g.111348898C>T (hg19) ; chr12:g.110911094C>T (hg38)
• PubMed: PMID:18533079 ; PMID:23343568 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110911094C>T , CM000674.2:g.110911094C>T	GRCh38
NC_000012.11:g.111348898C>T , CM000674.1:g.111348898C>T	GRCh37
NC_000012.10:g.109833281C>T	NCBI36
NG_007554.1:g.14484G>A , LRG_393:g.14484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.484G>A MANE Select	ENSP00000228841.8:p.Gly162Arg
ENST00000663220.1:c.427G>A	ENSP00000499568.1:p.Gly143Arg
ENST00000228841.12:c.484G>A	ENSP00000228841.7:p.Gly162Arg
ENST00000548438.1:c.442G>A	ENSP00000447154.1:p.Gly148Arg
NM_000432.3:c.484G>A , LRG_393t1:c.484G>A	NP_000423.2:p.Gly162Arg
NM_000432.4:c.484G>A MANE Select	NP_000423.2:p.Gly162Arg