Canonical Allele Identifier: CA325772
Gene: MYLK2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.31821560A>G
GRCh37 chr20:g.30409363A>G
Revel Score:
ENST00000375994 0.050
ENST00000375985 (MANE Select) 0.050
gnomAD v2:
20:30409363 A / G
gnomAD v3:
20:31821560 A / G
gnomAD v4:
chr20-31821560-A-G
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31821560A>G , CM000682.2:g.31821560A>G GRCh38
NC_000020.10:g.30409363A>G , CM000682.1:g.30409363A>G GRCh37
NC_000020.9:g.29873024A>G NCBI36
NG_012847.1:g.7186A>G , LRG_392:g.7186A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.595A>G MANE Select ENSP00000365152.4:p.Ile199Val
ENST00000375985.4:c.595A>G ENSP00000365152.4:p.Ile199Val
ENST00000375994.6:c.595A>G ENSP00000365162.2:p.Ile199Val
NM_033118.3:c.595A>G , LRG_392t1:c.595A>G NP_149109.1:p.Ile199Val
XR_244155.1:n.760A>G
NM_033118.4:c.595A>G MANE Select NP_149109.1:p.Ile199Val
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