Canonical Allele Identifier: CA408524869
Gene: MYLK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3228201
ClinVar RCV Id: RCV004519911
MyVariant Identifiers: chr20:g.30407949A>T (hg19) chr20:g.31820146A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820146A>T , CM000682.2:g.31820146A>T GRCh38
NC_000020.10:g.30407949A>T , CM000682.1:g.30407949A>T GRCh37
NC_000020.9:g.29871610A>T NCBI36
NG_012847.1:g.5772A>T , LRG_392:g.5772A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.73A>T MANE Select ENSP00000365152.4:p.Thr25Ser
ENST00000375985.4:c.73A>T ENSP00000365152.4:p.Thr25Ser
ENST00000375994.6:c.73A>T ENSP00000365162.2:p.Thr25Ser
NM_033118.3:c.73A>T , LRG_392t1:c.73A>T NP_149109.1:p.Thr25Ser
XR_244155.1:n.238A>T
NM_033118.4:c.73A>T MANE Select NP_149109.1:p.Thr25Ser
Search 100 bp 5'
Search 100 bp 3'