Canonical Allele Identifier: CA177180
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 164493
ClinVar RCV Id: RCV000151373 RCV003764915
dbSNP Id: rs551492045
ExAC: 20:30407981 C / T
gnomAD v2: 20-30407981-C-T
gnomAD v3: 20-31820178-C-T
gnomAD v4: 20-31820178-C-T
MyVariant Identifiers: chr20:g.30407981C>T (hg19) chr20:g.31820178C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820178C>T , CM000682.2:g.31820178C>T GRCh38
NC_000020.10:g.30407981C>T , CM000682.1:g.30407981C>T GRCh37
NC_000020.9:g.29871642C>T NCBI36
NG_012847.1:g.5804C>T , LRG_392:g.5804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.105C>T MANE Select ENSP00000365152.4:p.Asp35=
ENST00000375985.4:c.105C>T ENSP00000365152.4:p.Asp35=
ENST00000375994.6:c.105C>T ENSP00000365162.2:p.Asp35=
NM_033118.3:c.105C>T , LRG_392t1:c.105C>T NP_149109.1:p.Asp35=
XR_244155.1:n.270C>T
NM_033118.4:c.105C>T MANE Select NP_149109.1:p.Asp35=
Search 100 bp 5'
Search 100 bp 3'