Canonical Allele Identifier: CA116736

Gene: MYLK2

Linked Data

• ClinVar Variation Id: 4244
• ClinVar RCV Id: RCV000004466 ; RCV000154782 ; RCV001170850 ; RCV000467194 ; RCV001701560
• dbSNP Id: rs121908108
• ExAC: 20:30408160 C / A
• gnomAD v2: 20-30408160-C-A
• gnomAD v3: 20-31820357-C-A
• gnomAD v4: 20-31820357-C-A
• MyVariant Identifiers: chr20:g.30408160C>A (hg19) ; chr20:g.31820357C>A (hg38)
• PubMed: PMID:11733062 ; PMID:22995991 ; PMID:23299917

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820357C>A , CM000682.2:g.31820357C>A	GRCh38
NC_000020.10:g.30408160C>A , CM000682.1:g.30408160C>A	GRCh37
NC_000020.9:g.29871821C>A	NCBI36
NG_012847.1:g.5983C>A , LRG_392:g.5983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.284C>A MANE Select	ENSP00000365152.4:p.Ala95Glu
ENST00000375985.4:c.284C>A	ENSP00000365152.4:p.Ala95Glu
ENST00000375994.6:c.284C>A	ENSP00000365162.2:p.Ala95Glu
NM_033118.3:c.284C>A , LRG_392t1:c.284C>A	NP_149109.1:p.Ala95Glu
XR_244155.1:n.449C>A
NM_033118.4:c.284C>A MANE Select	NP_149109.1:p.Ala95Glu