Canonical Allele Identifier: CA9802851
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 473043
ClinVar RCV Id: RCV000541498 RCV003235285 RCV001549845
dbSNP Id: rs200204126
ExAC: 20:30408033 G / A
gnomAD v2: 20-30408033-G-A
gnomAD v3: 20-31820230-G-A
gnomAD v4: 20-31820230-G-A
MyVariant Identifiers: chr20:g.30408033G>A (hg19) chr20:g.31820230G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820230G>A , CM000682.2:g.31820230G>A GRCh38
NC_000020.10:g.30408033G>A , CM000682.1:g.30408033G>A GRCh37
NC_000020.9:g.29871694G>A NCBI36
NG_012847.1:g.5856G>A , LRG_392:g.5856G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.157G>A MANE Select ENSP00000365152.4:p.Asp53Asn
ENST00000375985.4:c.157G>A ENSP00000365152.4:p.Asp53Asn
ENST00000375994.6:c.157G>A ENSP00000365162.2:p.Asp53Asn
NM_033118.3:c.157G>A , LRG_392t1:c.157G>A NP_149109.1:p.Asp53Asn
XR_244155.1:n.322G>A
NM_033118.4:c.157G>A MANE Select NP_149109.1:p.Asp53Asn
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