Canonical Allele Identifier: CA607329970

Gene: MYL2

Linked Data

• dbSNP Id: rs1566148758
• gnomAD v2: 12-111352113-A-AGTGCGCAGT
• gnomAD v4: 12-110914309-A-AGTGCGCAGT
• MyVariant Identifiers: chr12:g.111352113_111352114insGTGCGCAGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914309_110914310insGTGCGCAGT , CM000674.2:g.110914309_110914310insGTGCGCAGT	GRCh38
NC_000012.11:g.111352113_111352114insGTGCGCAGT , CM000674.1:g.111352113_111352114insGTGCGCAGT	GRCh37
NC_000012.10:g.109836496_109836497insGTGCGCAGT	NCBI36
NG_007554.1:g.11268_11269insACTGCGCAC , LRG_393:g.11268_11269insACTGCGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.170-20_170-19insACTGCGCAC MANE Select	ENSP00000228841.8:n.170-20_170-19insACTGCGCAC
ENST00000663220.1:c.113-20_113-19insACTGCGCAC	ENSP00000499568.1:n.113-20_113-19insACTGCGCAC
ENST00000228841.12:c.170-20_170-19insACTGCGCAC	ENSP00000228841.7:n.170-20_170-19insACTGCGCAC
ENST00000548438.1:c.108_109insACTGCGCAC	ENSP00000447154.1:p.Glu36_Cys37insThrAlaHis
NM_000432.3:c.170-20_170-19insACTGCGCAC , LRG_393t1:c.170-20_170-19insACTGCGCAC	NP_000423.2:n.170-20_170-19insACTGCGCAC
NM_000432.4:c.170-20_170-19insACTGCGCAC MANE Select	NP_000423.2:n.170-20_170-19insACTGCGCAC