Canonical Allele Identifier: CA510173936
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198459
ClinVar RCV Id: RCV002629403
dbSNP Id: rs1310164094
gnomAD v2: 20-30407951-A-G
gnomAD v3: 20-31820148-A-G
gnomAD v4: 20-31820148-A-G
MyVariant Identifiers: chr20:g.30407951A>G (hg19) chr20:g.31820148A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820148A>G , CM000682.2:g.31820148A>G GRCh38
NC_000020.10:g.30407951A>G , CM000682.1:g.30407951A>G GRCh37
NC_000020.9:g.29871612A>G NCBI36
NG_012847.1:g.5774A>G , LRG_392:g.5774A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.75A>G MANE Select ENSP00000365152.4:p.Thr25=
ENST00000375985.4:c.75A>G ENSP00000365152.4:p.Thr25=
ENST00000375994.6:c.75A>G ENSP00000365162.2:p.Thr25=
NM_033118.3:c.75A>G , LRG_392t1:c.75A>G NP_149109.1:p.Thr25=
XR_244155.1:n.240A>G
NM_033118.4:c.75A>G MANE Select NP_149109.1:p.Thr25=
Search 100 bp 5'
Search 100 bp 3'