Canonical Allele Identifier: CA386698876
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111352098G>T (hg19) chr12:g.110914294G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.170-4C>A MANE Select ENSP00000228841.8:n.170-4C>A
ENST00000663220.1:c.113-4C>A ENSP00000499568.1:n.113-4C>A
ENST00000228841.12:c.170-4C>A ENSP00000228841.7:n.170-4C>A
ENST00000548438.1:c.124C>A ENSP00000447154.1:p.Leu42Ile
NM_000432.3:c.170-4C>A , LRG_393t1:c.170-4C>A NP_000423.2:n.170-4C>A
NM_000432.4:c.170-4C>A MANE Select NP_000423.2:n.170-4C>A
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