Canonical Allele Identifier: CA635267884
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs1359112581
gnomAD v2: 20-30407960-AC-A
gnomAD v4: 20-31820157-AC-A
MyVariant Identifiers: chr20:g.30407961del (hg19) chr20:g.31820158del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820161del , CM000682.2:g.31820161del GRCh38
NC_000020.10:g.30407964del , CM000682.1:g.30407964del GRCh37
NC_000020.9:g.29871625del NCBI36
NG_012847.1:g.5787del , LRG_392:g.5787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.88del MANE Select ENSP00000365152.4:p.Leu30TrpfsTer21
ENST00000375985.4:c.88del ENSP00000365152.4:p.Leu30TrpfsTer21
ENST00000375994.6:c.88del ENSP00000365162.2:p.Leu30TrpfsTer21
NM_033118.3:c.88del , LRG_392t1:c.88del NP_149109.1:p.Leu30TrpfsTer21
XR_244155.1:n.253del
NM_033118.4:c.88del MANE Select NP_149109.1:p.Leu30TrpfsTer21
Search 100 bp 5'
Search 100 bp 3'