Canonical Allele Identifier: CA683557020
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773980
ClinVar RCV Id: RCV003532742
dbSNP Id: rs758237606
MyVariant Identifiers: chr12:g.111352098G>A (hg19) chr12:g.110914294G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914294G>A , CM000674.2:g.110914294G>A GRCh38
NC_000012.11:g.111352098G>A , CM000674.1:g.111352098G>A GRCh37
NC_000012.10:g.109836481G>A NCBI36
NG_007554.1:g.11284C>T , LRG_393:g.11284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.170-4C>T MANE Select ENSP00000228841.8:n.170-4C>T
ENST00000663220.1:c.113-4C>T ENSP00000499568.1:n.113-4C>T
ENST00000228841.12:c.170-4C>T ENSP00000228841.7:n.170-4C>T
ENST00000548438.1:c.124C>T ENSP00000447154.1:p.Leu42=
NM_000432.3:c.170-4C>T , LRG_393t1:c.170-4C>T NP_000423.2:n.170-4C>T
NM_000432.4:c.170-4C>T MANE Select NP_000423.2:n.170-4C>T
Search 100 bp 5'
Search 100 bp 3'