Canonical Allele Identifier: CA237406

Gene: MYLK2

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

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