Canonical Allele Identifier: CA043353

Gene: MYL2

Linked Data

• ClinVar Variation Id: 921552
• ClinVar RCV Id: RCV001181002 ; RCV001876013
• dbSNP Id: rs747098269
• ExAC: 12:111348907 T / C
• gnomAD v2: 12-111348907-T-C
• gnomAD v4: 12-110911103-T-C
• MyVariant Identifiers: chr12:g.111348907T>C (hg19) ; chr12:g.110911103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110911103T>C , CM000674.2:g.110911103T>C	GRCh38
NC_000012.11:g.111348907T>C , CM000674.1:g.111348907T>C	GRCh37
NC_000012.10:g.109833290T>C	NCBI36
NG_007554.1:g.14475A>G , LRG_393:g.14475A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.475A>G MANE Select	ENSP00000228841.8:p.Ile159Val
ENST00000663220.1:c.418A>G	ENSP00000499568.1:p.Ile140Val
ENST00000228841.12:c.475A>G	ENSP00000228841.7:p.Ile159Val
ENST00000548438.1:c.433A>G	ENSP00000447154.1:p.Ile145Val
NM_000432.3:c.475A>G , LRG_393t1:c.475A>G	NP_000423.2:p.Ile159Val
NM_000432.4:c.475A>G MANE Select	NP_000423.2:p.Ile159Val