Canonical Allele Identifier: CA010340

Gene: MYL2

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

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