Canonical Allele Identifier: CA041116
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs781025269
ExAC: 12:111351946 A / T
gnomAD v2: 12-111351946-A-T
gnomAD v4: 12-110914142-A-T
MyVariant Identifiers: chr12:g.111351946A>T (hg19) chr12:g.110914142A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914142A>T , CM000674.2:g.110914142A>T GRCh38
NC_000012.11:g.111351946A>T , CM000674.1:g.111351946A>T GRCh37
NC_000012.10:g.109836329A>T NCBI36
NG_007554.1:g.11436T>A , LRG_393:g.11436T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.274+44T>A MANE Select ENSP00000228841.8:n.274+44T>A
ENST00000663220.1:c.217+44T>A ENSP00000499568.1:n.217+44T>A
ENST00000228841.12:c.274+44T>A ENSP00000228841.7:n.274+44T>A
ENST00000548438.1:c.232+44T>A ENSP00000447154.1:n.232+44T>A
ENST00000549029.1:n.105+44T>A
NM_000432.3:c.274+44T>A , LRG_393t1:c.274+44T>A NP_000423.2:n.274+44T>A
NM_000432.4:c.274+44T>A MANE Select NP_000423.2:n.274+44T>A
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