Canonical Allele Identifier: CA9802834
Gene: MYLK2 HGNC NCBI

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)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'