Canonical Allele Identifier: CA009910

Gene: MYL2

Linked Data

• ClinVar Variation Id: 43458
• ClinVar RCV Id: RCV000036384 ; RCV000119378 ; RCV000620413 ; RCV000819932 ; RCV001187128
• dbSNP Id: rs199474809
• gnomAD v2: 12-111352094-C-T
• gnomAD v3: 12-110914290-C-T
• gnomAD v4: 12-110914290-C-T
• MyVariant Identifiers: chr12:g.111352094C>T (hg19) ; chr12:g.110914290C>T (hg38)
• PubMed: PMID:21823217

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914290C>T , CM000674.2:g.110914290C>T	GRCh38
NC_000012.11:g.111352094C>T , CM000674.1:g.111352094C>T	GRCh37
NC_000012.10:g.109836477C>T	NCBI36
NG_007554.1:g.11288G>A , LRG_393:g.11288G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.170G>A MANE Select	ENSP00000228841.8:p.Gly57Glu
ENST00000663220.1:c.113G>A	ENSP00000499568.1:p.Gly38Glu
ENST00000228841.12:c.170G>A	ENSP00000228841.7:p.Gly57Glu
ENST00000548438.1:c.128G>A	ENSP00000447154.1:p.Gly43Glu
ENST00000549029.1:n.1G>A
NM_000432.3:c.170G>A , LRG_393t1:c.170G>A	NP_000423.2:p.Gly57Glu
NM_000432.4:c.170G>A MANE Select	NP_000423.2:p.Gly57Glu