Canonical Allele Identifier: CA9803033
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs371731992
ExAC: 20:30412015 C / A
gnomAD v2: 20-30412015-C-A
gnomAD v3: 20-31824212-C-A
gnomAD v4: 20-31824212-C-A
MyVariant Identifiers: chr20:g.30412015C>A (hg19) chr20:g.31824212C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31824212C>A , CM000682.2:g.31824212C>A GRCh38
NC_000020.10:g.30412015C>A , CM000682.1:g.30412015C>A GRCh37
NC_000020.9:g.29875676C>A NCBI36
NG_012847.1:g.9838C>A , LRG_392:g.9838C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375985.5:c.879-47C>A MANE Select ENSP00000365152.4:n.879-47C>A
ENST00000375985.4:c.879-47C>A ENSP00000365152.4:n.879-47C>A
ENST00000375994.6:c.879-47C>A ENSP00000365162.2:n.879-47C>A
NM_033118.3:c.879-47C>A , LRG_392t1:c.879-47C>A NP_149109.1:n.879-47C>A
XR_244155.1:n.1245-47C>A
NM_033118.4:c.879-47C>A MANE Select NP_149109.1:n.879-47C>A
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