Canonical Allele Identifier: CA386698784
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 464141
ClinVar RCV Id: RCV000554010
dbSNP Id: rs866041854
gnomAD v4: 12-110914253-C-A
MyVariant Identifiers: chr12:g.111352057C>A (hg19) chr12:g.110914253C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914253C>A , CM000674.2:g.110914253C>A GRCh38
NC_000012.11:g.111352057C>A , CM000674.1:g.111352057C>A GRCh37
NC_000012.10:g.109836440C>A NCBI36
NG_007554.1:g.11325G>T , LRG_393:g.11325G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.207G>T MANE Select ENSP00000228841.8:p.Met69Ile
ENST00000663220.1:c.150G>T ENSP00000499568.1:p.Met50Ile
ENST00000228841.12:c.207G>T ENSP00000228841.7:p.Met69Ile
ENST00000548438.1:c.165G>T ENSP00000447154.1:p.Met55Ile
ENST00000549029.1:n.38G>T
NM_000432.3:c.207G>T , LRG_393t1:c.207G>T NP_000423.2:p.Met69Ile
NM_000432.4:c.207G>T MANE Select NP_000423.2:p.Met69Ile
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