Canonical Allele Identifier: CA386697798
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111350940T>A (hg19) chr12:g.110913136T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913136T>A , CM000674.2:g.110913136T>A GRCh38
NC_000012.11:g.111350940T>A , CM000674.1:g.111350940T>A GRCh37
NC_000012.10:g.109835323T>A NCBI36
NG_007554.1:g.12442A>T , LRG_393:g.12442A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.362A>T MANE Select ENSP00000228841.8:p.Glu121Val
ENST00000663220.1:c.305A>T ENSP00000499568.1:p.Glu102Val
ENST00000228841.12:c.362A>T ENSP00000228841.7:p.Glu121Val
ENST00000548438.1:c.320A>T ENSP00000447154.1:p.Glu107Val
ENST00000549029.1:n.294A>T
NM_000432.3:c.362A>T , LRG_393t1:c.362A>T NP_000423.2:p.Glu121Val
NM_000432.4:c.362A>T MANE Select NP_000423.2:p.Glu121Val
Search 100 bp 5'
Search 100 bp 3'