Canonical Allele Identifier: CA010148

Gene: MYL2

Linked Data

• ClinVar Variation Id: 31772
• ClinVar RCV Id: RCV000024463 ; RCV000222305 ; RCV000610862 ; RCV001778662 ; RCV003125837
• dbSNP Id: rs3833910
• ExAC: 12:111351029 TC / T
• gnomAD v2: 12-111351029-TC-T
• gnomAD v3: 12-110913225-TC-T
• gnomAD v4: 12-110913225-TC-T
• MyVariant Identifiers: chr12:g.111351030del (hg19) ; chr12:g.110913226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913230del , CM000674.2:g.110913230del	GRCh38
NC_000012.11:g.111351034del , CM000674.1:g.111351034del	GRCh37
NC_000012.10:g.109835417del	NCBI36
NG_007554.1:g.12352del , LRG_393:g.12352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.353+20del MANE Select	ENSP00000228841.8:n.353+20del
ENST00000663220.1:c.296+20del	ENSP00000499568.1:n.296+20del
ENST00000228841.12:c.353+20del	ENSP00000228841.7:n.353+20del
ENST00000548438.1:c.311+20del	ENSP00000447154.1:n.311+20del
ENST00000549029.1:n.204del
NM_000432.3:c.353+20del , LRG_393t1:c.353+20del	NP_000423.2:n.353+20del
NM_000432.4:c.353+20del MANE Select	NP_000423.2:n.353+20del