Canonical Allele Identifier: CA243562017

Gene: MYL2

Linked Data

• dbSNP Id: rs1033281586
• gnomAD v3: 12-110914075-A-AT
• gnomAD v4: 12-110914075-A-AT
• MyVariant Identifiers: chr12:g.111351879_111351880insT (hg19) ; chr12:g.110914075_110914076insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914082dup , CM000674.2:g.110914082dup	GRCh38
NC_000012.11:g.111351886dup , CM000674.1:g.111351886dup	GRCh37
NC_000012.10:g.109836269dup	NCBI36
NG_007554.1:g.11502dup , LRG_393:g.11502dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.274+110dup MANE Select	ENSP00000228841.8:n.274+110dup
ENST00000663220.1:c.217+110dup	ENSP00000499568.1:n.217+110dup
ENST00000228841.12:c.274+110dup	ENSP00000228841.7:n.274+110dup
ENST00000548438.1:c.232+110dup	ENSP00000447154.1:n.232+110dup
ENST00000549029.1:n.105+110dup
NM_000432.3:c.274+110dup , LRG_393t1:c.274+110dup	NP_000423.2:n.274+110dup
NM_000432.4:c.274+110dup MANE Select	NP_000423.2:n.274+110dup