Canonical Allele Identifier: CA237406
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191736
ClinVar RCV Id: RCV000172057 RCV001444325
dbSNP Id: rs747109352
ExAC: 20:30408070 C / T
gnomAD v2: 20-30408070-C-T
gnomAD v3: 20-31820267-C-T
gnomAD v4: 20-31820267-C-T
COSMIC: COSM5966165
MyVariant Identifiers: chr20:g.30408070C>T (hg19) chr20:g.31820267C>T (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820267C>T , CM000682.2:g.31820267C>T GRCh38
NC_000020.10:g.30408070C>T , CM000682.1:g.30408070C>T GRCh37
NC_000020.9:g.29871731C>T NCBI36
NG_012847.1:g.5893C>T , LRG_392:g.5893C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375985.5:c.194C>T MANE Select ENSP00000365152.4:p.Thr65Ile
ENST00000375985.4:c.194C>T ENSP00000365152.4:p.Thr65Ile
ENST00000375994.6:c.194C>T ENSP00000365162.2:p.Thr65Ile
NM_033118.3:c.194C>T , LRG_392t1:c.194C>T NP_149109.1:p.Thr65Ile
XR_244155.1:n.359C>T
NM_033118.4:c.194C>T MANE Select NP_149109.1:p.Thr65Ile
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