Canonical Allele Identifier: CA510173985
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2155933
ClinVar RCV Id: RCV003084007
dbSNP Id: rs756949426
gnomAD v3: 20-31820172-G-T
gnomAD v4: 20-31820172-G-T
MyVariant Identifiers: chr20:g.30407975G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820172G>T , CM000682.2:g.31820172G>T GRCh38
NC_000020.10:g.30407975G>T , CM000682.1:g.30407975G>T GRCh37
NC_000020.9:g.29871636G>T NCBI36
NG_012847.1:g.5798G>T , LRG_392:g.5798G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.99G>T MANE Select ENSP00000365152.4:p.Gly33=
ENST00000375985.4:c.99G>T ENSP00000365152.4:p.Gly33=
ENST00000375994.6:c.99G>T ENSP00000365162.2:p.Gly33=
NM_033118.3:c.99G>T , LRG_392t1:c.99G>T NP_149109.1:p.Gly33=
XR_244155.1:n.264G>T
NM_033118.4:c.99G>T MANE Select NP_149109.1:p.Gly33=
Search 100 bp 5'
Search 100 bp 3'