Canonical Allele Identifier: CA138522

Gene: MYLK2

Linked Data

• ClinVar Variation Id: 46522
• ClinVar RCV Id: RCV000039784 ; RCV000172570 ; RCV000770567 ; RCV001081175 ; RCV001293152
• dbSNP Id: rs138130914
• ExAC: 20:30408049 C / A
• gnomAD v2: 20-30408049-C-A
• gnomAD v3: 20-31820246-C-A
• gnomAD v4: 20-31820246-C-A
• MyVariant Identifiers: chr20:g.30408049C>A (hg19) ; chr20:g.31820246C>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820246C>A , CM000682.2:g.31820246C>A	GRCh38
NC_000020.10:g.30408049C>A , CM000682.1:g.30408049C>A	GRCh37
NC_000020.9:g.29871710C>A	NCBI36
NG_012847.1:g.5872C>A , LRG_392:g.5872C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.173C>A MANE Select	ENSP00000365152.4:p.Ala58Asp
ENST00000375985.4:c.173C>A	ENSP00000365152.4:p.Ala58Asp
ENST00000375994.6:c.173C>A	ENSP00000365162.2:p.Ala58Asp
NM_033118.3:c.173C>A , LRG_392t1:c.173C>A	NP_149109.1:p.Ala58Asp
XR_244155.1:n.338C>A
NM_033118.4:c.173C>A MANE Select	NP_149109.1:p.Ala58Asp