Canonical Allele Identifier: CA386696731
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742964
ClinVar RCV Id: RCV002337726 RCV003096459
dbSNP Id: rs1475634829
MyVariant Identifiers: chr12:g.111348906A>G (hg19) chr12:g.110911102A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.476T>C MANE Select ENSP00000228841.8:p.Ile159Thr
ENST00000663220.1:c.419T>C ENSP00000499568.1:p.Ile140Thr
ENST00000228841.12:c.476T>C ENSP00000228841.7:p.Ile159Thr
ENST00000548438.1:c.434T>C ENSP00000447154.1:p.Ile145Thr
NM_000432.3:c.476T>C , LRG_393t1:c.476T>C NP_000423.2:p.Ile159Thr
NM_000432.4:c.476T>C MANE Select NP_000423.2:p.Ile159Thr
Search 100 bp 5'
Search 100 bp 3'