Canonical Allele Identifier: CA9802834

Gene: MYLK2

Linked Data

• ClinVar Variation Id: 540257
• ClinVar RCV Id: RCV000650230
• dbSNP Id: rs776262276
• ExAC: 20:30407944 G / A
• gnomAD v2: 20-30407944-G-A
• gnomAD v3: 20-31820141-G-A
• gnomAD v4: 20-31820141-G-A
• MyVariant Identifiers: chr20:g.30407944G>A (hg19) ; chr20:g.31820141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820141G>A , CM000682.2:g.31820141G>A	GRCh38
NC_000020.10:g.30407944G>A , CM000682.1:g.30407944G>A	GRCh37
NC_000020.9:g.29871605G>A	NCBI36
NG_012847.1:g.5767G>A , LRG_392:g.5767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.68G>A MANE Select	ENSP00000365152.4:p.Gly23Asp
ENST00000375985.4:c.68G>A	ENSP00000365152.4:p.Gly23Asp
ENST00000375994.6:c.68G>A	ENSP00000365162.2:p.Gly23Asp
NM_033118.3:c.68G>A , LRG_392t1:c.68G>A	NP_149109.1:p.Gly23Asp
XR_244155.1:n.233G>A
NM_033118.4:c.68G>A MANE Select	NP_149109.1:p.Gly23Asp