Canonical Allele Identifier: CA010026
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 164476
ClinVar RCV Id: RCV000151362 RCV002516041
dbSNP Id: rs727503297
MyVariant Identifiers: chr12:g.111351128C>A (hg19) chr12:g.110913324C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913324C>A , CM000674.2:g.110913324C>A GRCh38
NC_000012.11:g.111351128C>A , CM000674.1:g.111351128C>A GRCh37
NC_000012.10:g.109835511C>A NCBI36
NG_007554.1:g.12254G>T , LRG_393:g.12254G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.275G>T MANE Select ENSP00000228841.8:p.Gly92Val
ENST00000663220.1:c.218G>T ENSP00000499568.1:p.Gly73Val
ENST00000228841.12:c.275G>T ENSP00000228841.7:p.Gly92Val
ENST00000548438.1:c.233G>T ENSP00000447154.1:p.Gly78Val
ENST00000549029.1:n.106G>T
NM_000432.3:c.275G>T , LRG_393t1:c.275G>T NP_000423.2:p.Gly92Val
NM_000432.4:c.275G>T MANE Select NP_000423.2:p.Gly92Val
Search 100 bp 5'
Search 100 bp 3'