Canonical Allele Identifier: CA386698113
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374447
ClinVar RCV Id: RCV001877831
dbSNP Id: rs2136770896
MyVariant Identifiers: chr12:g.111351113T>A (hg19) chr12:g.110913309T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913309T>A , CM000674.2:g.110913309T>A GRCh38
NC_000012.11:g.111351113T>A , CM000674.1:g.111351113T>A GRCh37
NC_000012.10:g.109835496T>A NCBI36
NG_007554.1:g.12269A>T , LRG_393:g.12269A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.290A>T MANE Select ENSP00000228841.8:p.Glu97Val
ENST00000663220.1:c.233A>T ENSP00000499568.1:p.Glu78Val
ENST00000228841.12:c.290A>T ENSP00000228841.7:p.Glu97Val
ENST00000548438.1:c.248A>T ENSP00000447154.1:p.Glu83Val
ENST00000549029.1:n.121A>T
NM_000432.3:c.290A>T , LRG_393t1:c.290A>T NP_000423.2:p.Glu97Val
NM_000432.4:c.290A>T MANE Select NP_000423.2:p.Glu97Val
Search 100 bp 5'
Search 100 bp 3'