Canonical Allele Identifier: CA386698648
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351995A>T (hg19) chr12:g.110914191A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914191A>T , CM000674.2:g.110914191A>T GRCh38
NC_000012.11:g.111351995A>T , CM000674.1:g.111351995A>T GRCh37
NC_000012.10:g.109836378A>T NCBI36
NG_007554.1:g.11387T>A , LRG_393:g.11387T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.269T>A MANE Select ENSP00000228841.8:p.Leu90His
ENST00000663220.1:c.212T>A ENSP00000499568.1:p.Leu71His
ENST00000228841.12:c.269T>A ENSP00000228841.7:p.Leu90His
ENST00000548438.1:c.227T>A ENSP00000447154.1:p.Leu76His
ENST00000549029.1:n.100T>A
NM_000432.3:c.269T>A , LRG_393t1:c.269T>A NP_000423.2:p.Leu90His
NM_000432.4:c.269T>A MANE Select NP_000423.2:p.Leu90His
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