Canonical Allele Identifier: CA010439
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43479
ClinVar RCV Id: RCV000036408
dbSNP Id: rs397516406

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911093C>T , CM000674.2:g.110911093C>T GRCh38
NC_000012.11:g.111348897C>T , CM000674.1:g.111348897C>T GRCh37
NC_000012.10:g.109833280C>T NCBI36
NG_007554.1:g.14485G>A , LRG_393:g.14485G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.485G>A MANE Select ENSP00000228841.8:p.Gly162Glu
ENST00000663220.1:c.428G>A ENSP00000499568.1:p.Gly143Glu
ENST00000228841.12:c.485G>A ENSP00000228841.7:p.Gly162Glu
ENST00000548438.1:c.443G>A ENSP00000447154.1:p.Gly148Glu
NM_000432.3:c.485G>A , LRG_393t1:c.485G>A NP_000423.2:p.Gly162Glu
NM_000432.4:c.485G>A MANE Select NP_000423.2:p.Gly162Glu