Canonical Allele Identifier: CA386696730

Gene: MYL2

Linked Data

• ClinVar Variation Id: 2279132
• ClinVar RCV Id: RCV002844550
• MyVariant Identifiers: chr12:g.111348906A>C (hg19) ; chr12:g.110911102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110911102A>C , CM000674.2:g.110911102A>C	GRCh38
NC_000012.11:g.111348906A>C , CM000674.1:g.111348906A>C	GRCh37
NC_000012.10:g.109833289A>C	NCBI36
NG_007554.1:g.14476T>G , LRG_393:g.14476T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.476T>G MANE Select	ENSP00000228841.8:p.Ile159Ser
ENST00000663220.1:c.419T>G	ENSP00000499568.1:p.Ile140Ser
ENST00000228841.12:c.476T>G	ENSP00000228841.7:p.Ile159Ser
ENST00000548438.1:c.434T>G	ENSP00000447154.1:p.Ile145Ser
NM_000432.3:c.476T>G , LRG_393t1:c.476T>G	NP_000423.2:p.Ile159Ser
NM_000432.4:c.476T>G MANE Select	NP_000423.2:p.Ile159Ser