Canonical Allele Identifier: CA481751025
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110914250-G-T
MyVariant Identifiers: chr12:g.111352054G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914250G>T , CM000674.2:g.110914250G>T GRCh38
NC_000012.11:g.111352054G>T , CM000674.1:g.111352054G>T GRCh37
NC_000012.10:g.109836437G>T NCBI36
NG_007554.1:g.11328C>A , LRG_393:g.11328C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.210C>A MANE Select ENSP00000228841.8:p.Ile70=
ENST00000663220.1:c.153C>A ENSP00000499568.1:p.Ile51=
ENST00000228841.12:c.210C>A ENSP00000228841.7:p.Ile70=
ENST00000548438.1:c.168C>A ENSP00000447154.1:p.Ile56=
ENST00000549029.1:n.41C>A
NM_000432.3:c.210C>A , LRG_393t1:c.210C>A NP_000423.2:p.Ile70=
NM_000432.4:c.210C>A MANE Select NP_000423.2:p.Ile70=
Search 100 bp 5'
Search 100 bp 3'