Canonical Allele Identifier: CA010340
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191580
ClinVar RCV Id: RCV000171842 RCV000618518 RCV001553792 RCV001852081
dbSNP Id: rs786205430
ExAC: 12:111348950 AG / A
gnomAD v2: 12-111348950-AG-A
gnomAD v3: 12-110911146-AG-A
gnomAD v4: 12-110911146-AG-A
COSMIC: COSM1685699
MyVariant Identifiers: chr12:g.111348956del (hg19) chr12:g.111348951del (hg19) chr12:g.110911152del (hg38) chr12:g.110911147del (hg38)
PubMed: PMID:23365102 PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911152del , CM000674.2:g.110911152del GRCh38
NC_000012.11:g.111348956del , CM000674.1:g.111348956del GRCh37
NC_000012.10:g.109833339del NCBI36
NG_007554.1:g.14431del , LRG_393:g.14431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.431del MANE Select ENSP00000228841.8:p.Pro144LeufsTer3
ENST00000663220.1:c.374del ENSP00000499568.1:p.Pro125LeufsTer3
ENST00000228841.12:c.431del ENSP00000228841.7:p.Pro144LeufsTer3
ENST00000548438.1:c.389del ENSP00000447154.1:p.Pro130LeufsTer3
NM_000432.3:c.431del , LRG_393t1:c.431del NP_000423.2:p.Pro144LeufsTer3
NM_000432.4:c.431del MANE Select NP_000423.2:p.Pro144LeufsTer3
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