Canonical Allele Identifier: CA010362
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191733
ClinVar RCV Id: RCV000172052 RCV000795137 RCV000852437 RCV001191379 RCV002326947 RCV003323424 RCV003995672
dbSNP Id: rs199567559
ExAC: 12:111348949 C / T
gnomAD v2: 12-111348949-C-T
gnomAD v3: 12-110911145-C-T
gnomAD v4: 12-110911145-C-T
MyVariant Identifiers: chr12:g.111348949C>T (hg19) chr12:g.110911145C>T (hg38)
PubMed: PMID:23861362
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911145C>T , CM000674.2:g.110911145C>T GRCh38
NC_000012.11:g.111348949C>T , CM000674.1:g.111348949C>T GRCh37
NC_000012.10:g.109833332C>T NCBI36
NG_007554.1:g.14433G>A , LRG_393:g.14433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.433G>A MANE Select ENSP00000228841.8:p.Asp145Asn
ENST00000663220.1:c.376G>A ENSP00000499568.1:p.Asp126Asn
ENST00000228841.12:c.433G>A ENSP00000228841.7:p.Asp145Asn
ENST00000548438.1:c.391G>A ENSP00000447154.1:p.Asp131Asn
NM_000432.3:c.433G>A , LRG_393t1:c.433G>A NP_000423.2:p.Asp145Asn
NM_000432.4:c.433G>A MANE Select NP_000423.2:p.Asp145Asn
Search 100 bp 5'
Search 100 bp 3'