Canonical Allele Identifier: CA9803047
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 659386
ClinVar RCV Id: RCV000816384 RCV001593010
dbSNP Id: rs767211264
ExAC: 20:30412093 G / A
gnomAD v2: 20-30412093-G-A
gnomAD v3: 20-31824290-G-A
gnomAD v4: 20-31824290-G-A
COSMIC: COSM2888695
MyVariant Identifiers: chr20:g.30412093G>A (hg19) chr20:g.31824290G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31824290G>A , CM000682.2:g.31824290G>A GRCh38
NC_000020.10:g.30412093G>A , CM000682.1:g.30412093G>A GRCh37
NC_000020.9:g.29875754G>A NCBI36
NG_012847.1:g.9916G>A , LRG_392:g.9916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.910G>A MANE Select ENSP00000365152.4:p.Glu304Lys
ENST00000375985.4:c.910G>A ENSP00000365152.4:p.Glu304Lys
ENST00000375994.6:c.910G>A ENSP00000365162.2:p.Glu304Lys
NM_033118.3:c.910G>A , LRG_392t1:c.910G>A NP_149109.1:p.Glu304Lys
XR_244155.1:n.1276G>A
NM_033118.4:c.910G>A MANE Select NP_149109.1:p.Glu304Lys
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