Canonical Allele Identifier: CA010242
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14064
ClinVar RCV Id: RCV000015108 RCV000036401 RCV000148714 RCV000584799 RCV000620870 RCV000626337 RCV000766474 RCV000778905 RCV001184984
dbSNP Id: rs104894363
ExAC: 12:111356964 C / T
gnomAD v2: 12-111356964-C-T
gnomAD v3: 12-110919160-C-T
gnomAD v4: 12-110919160-C-T
MyVariant Identifiers: chr12:g.111356964C>T (hg19) chr12:g.110919160C>T (hg38)
PubMed: PMID:8673105 PMID:11102452 PMID:11748309 PMID:12668451 PMID:14594949 PMID:15483641 PMID:18506004 PMID:22091967 PMID:22797899 PMID:22958901 PMID:23197161 PMID:23299917 PMID:23785128 PMID:23861362 PMID:24055113 PMID:24111713 PMID:25324513 PMID:25333069 PMID:25351510 PMID:25637381 PMID:26385864 PMID:26664906 PMID:27153395 PMID:28223422
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110919160C>T , CM000674.2:g.110919160C>T GRCh38
NC_000012.11:g.111356964C>T , CM000674.1:g.111356964C>T GRCh37
NC_000012.10:g.109841347C>T NCBI36
NG_007554.1:g.6418G>A , LRG_393:g.6418G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.37G>A MANE Select ENSP00000228841.8:p.Ala13Thr
ENST00000663220.1:c.-21G>A ENSP00000499568.1:n.-21G>A
ENST00000228841.12:c.37G>A ENSP00000228841.7:p.Ala13Thr
ENST00000546404.1:n.230G>A
ENST00000548438.1:c.37G>A ENSP00000447154.1:p.Ala13Thr
NM_000432.3:c.37G>A , LRG_393t1:c.37G>A NP_000423.2:p.Ala13Thr
NM_000432.4:c.37G>A MANE Select NP_000423.2:p.Ala13Thr
Search 100 bp 5'
Search 100 bp 3'