Canonical Allele Identifier: CA010334
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 178948
ClinVar RCV Id: RCV000155724 RCV000530339 RCV000852438 RCV001555854
dbSNP Id: rs727504559
gnomAD v2: 12-111348961-C-T
COSMIC: COSM4038688
MyVariant Identifiers: chr12:g.111348961C>T (hg19) chr12:g.111348961_111348962delinsTG (hg19) chr12:g.110911157C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911157C>T , CM000674.2:g.110911157C>T GRCh38
NC_000012.11:g.111348961C>T , CM000674.1:g.111348961C>T GRCh37
NC_000012.10:g.109833344C>T NCBI36
NG_007554.1:g.14421G>A , LRG_393:g.14421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.421G>A MANE Select ENSP00000228841.8:p.Ala141Thr
ENST00000663220.1:c.364G>A ENSP00000499568.1:p.Ala122Thr
ENST00000228841.12:c.421G>A ENSP00000228841.7:p.Ala141Thr
ENST00000548438.1:c.379G>A ENSP00000447154.1:p.Ala127Thr
NM_000432.3:c.421G>A , LRG_393t1:c.421G>A NP_000423.2:p.Ala141Thr
NM_000432.4:c.421G>A MANE Select NP_000423.2:p.Ala141Thr
Search 100 bp 5'
Search 100 bp 3'