Canonical Allele Identifier: CA408524994
Gene: MYLK2 HGNC NCBI

Linked Data

gnomAD v4: 20-31820209-G-T
MyVariant Identifiers: chr20:g.30408012G>T (hg19) chr20:g.31820209G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820209G>T , CM000682.2:g.31820209G>T GRCh38
NC_000020.10:g.30408012G>T , CM000682.1:g.30408012G>T GRCh37
NC_000020.9:g.29871673G>T NCBI36
NG_012847.1:g.5835G>T , LRG_392:g.5835G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.136G>T MANE Select ENSP00000365152.4:p.Asp46Tyr
ENST00000375985.4:c.136G>T ENSP00000365152.4:p.Asp46Tyr
ENST00000375994.6:c.136G>T ENSP00000365162.2:p.Asp46Tyr
NM_033118.3:c.136G>T , LRG_392t1:c.136G>T NP_149109.1:p.Asp46Tyr
XR_244155.1:n.301G>T
NM_033118.4:c.136G>T MANE Select NP_149109.1:p.Asp46Tyr
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