Canonical Allele Identifier: CA010242

Gene: MYL2

Linked Data

• ClinVar Variation Id: 14064
• ClinVar RCV Id: RCV000015108 ; RCV000148714 ; RCV000584799 ; RCV000620870 ; RCV000626337 ; RCV000766474 ; 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

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