Canonical Allele Identifier: CA9802857
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007335
ClinVar RCV Id: RCV001304497
dbSNP Id: rs755363421
ExAC: 20:30408060 G / A
gnomAD v2: 20-30408060-G-A
gnomAD v3: 20-31820257-G-A
gnomAD v4: 20-31820257-G-A
MyVariant Identifiers: chr20:g.30408060G>A (hg19) chr20:g.31820257G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820257G>A , CM000682.2:g.31820257G>A GRCh38
NC_000020.10:g.30408060G>A , CM000682.1:g.30408060G>A GRCh37
NC_000020.9:g.29871721G>A NCBI36
NG_012847.1:g.5883G>A , LRG_392:g.5883G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375985.5:c.184G>A MANE Select ENSP00000365152.4:p.Gly62Arg
ENST00000375985.4:c.184G>A ENSP00000365152.4:p.Gly62Arg
ENST00000375994.6:c.184G>A ENSP00000365162.2:p.Gly62Arg
NM_033118.3:c.184G>A , LRG_392t1:c.184G>A NP_149109.1:p.Gly62Arg
XR_244155.1:n.349G>A
NM_033118.4:c.184G>A MANE Select NP_149109.1:p.Gly62Arg
Search 100 bp 5'
Search 100 bp 3'