Canonical Allele Identifier: CA9802837
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198335
ClinVar RCV Id: RCV002640395
dbSNP Id: rs752618730
ExAC: 20:30407961 C / A
gnomAD v2: 20-30407961-C-A
gnomAD v4: 20-31820158-C-A
MyVariant Identifiers: chr20:g.30407961C>A (hg19) chr20:g.31820158C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820158C>A , CM000682.2:g.31820158C>A GRCh38
NC_000020.10:g.30407961C>A , CM000682.1:g.30407961C>A GRCh37
NC_000020.9:g.29871622C>A NCBI36
NG_012847.1:g.5784C>A , LRG_392:g.5784C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.85C>A MANE Select ENSP00000365152.4:p.Pro29Thr
ENST00000375985.4:c.85C>A ENSP00000365152.4:p.Pro29Thr
ENST00000375994.6:c.85C>A ENSP00000365162.2:p.Pro29Thr
NM_033118.3:c.85C>A , LRG_392t1:c.85C>A NP_149109.1:p.Pro29Thr
XR_244155.1:n.250C>A
NM_033118.4:c.85C>A MANE Select NP_149109.1:p.Pro29Thr
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