Canonical Allele Identifier: CA9802861
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs778209138
ExAC: 20:30408069 A / G
gnomAD v2: 20-30408069-A-G
gnomAD v4: 20-31820266-A-G
MyVariant Identifiers: chr20:g.30408069A>G (hg19) chr20:g.31820266A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820266A>G , CM000682.2:g.31820266A>G GRCh38
NC_000020.10:g.30408069A>G , CM000682.1:g.30408069A>G GRCh37
NC_000020.9:g.29871730A>G NCBI36
NG_012847.1:g.5892A>G , LRG_392:g.5892A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375985.5:c.193A>G MANE Select ENSP00000365152.4:p.Thr65Ala
ENST00000375985.4:c.193A>G ENSP00000365152.4:p.Thr65Ala
ENST00000375994.6:c.193A>G ENSP00000365162.2:p.Thr65Ala
NM_033118.3:c.193A>G , LRG_392t1:c.193A>G NP_149109.1:p.Thr65Ala
XR_244155.1:n.358A>G
NM_033118.4:c.193A>G MANE Select NP_149109.1:p.Thr65Ala
Search 100 bp 5'
Search 100 bp 3'