Canonical Allele Identifier: CA386698862
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 846195
ClinVar RCV Id: RCV001049441
dbSNP Id: rs2071674789
MyVariant Identifiers: chr12:g.111352089C>T (hg19) chr12:g.110914285C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914285C>T , CM000674.2:g.110914285C>T GRCh38
NC_000012.11:g.111352089C>T , CM000674.1:g.111352089C>T GRCh37
NC_000012.10:g.109836472C>T NCBI36
NG_007554.1:g.11293G>A , LRG_393:g.11293G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.175G>A MANE Select ENSP00000228841.8:p.Val59Met
ENST00000663220.1:c.118G>A ENSP00000499568.1:p.Val40Met
ENST00000228841.12:c.175G>A ENSP00000228841.7:p.Val59Met
ENST00000548438.1:c.133G>A ENSP00000447154.1:p.Val45Met
ENST00000549029.1:n.6G>A
NM_000432.3:c.175G>A , LRG_393t1:c.175G>A NP_000423.2:p.Val59Met
NM_000432.4:c.175G>A MANE Select NP_000423.2:p.Val59Met
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