Canonical Allele Identifier: CA408525006
Gene: MYLK2 HGNC NCBI

Linked Data

gnomAD v4: 20-31820215-C-A
MyVariant Identifiers: chr20:g.30408018C>A (hg19) chr20:g.31820215C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820215C>A , CM000682.2:g.31820215C>A GRCh38
NC_000020.10:g.30408018C>A , CM000682.1:g.30408018C>A GRCh37
NC_000020.9:g.29871679C>A NCBI36
NG_012847.1:g.5841C>A , LRG_392:g.5841C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.142C>A MANE Select ENSP00000365152.4:p.Pro48Thr
ENST00000375985.4:c.142C>A ENSP00000365152.4:p.Pro48Thr
ENST00000375994.6:c.142C>A ENSP00000365162.2:p.Pro48Thr
NM_033118.3:c.142C>A , LRG_392t1:c.142C>A NP_149109.1:p.Pro48Thr
XR_244155.1:n.307C>A
NM_033118.4:c.142C>A MANE Select NP_149109.1:p.Pro48Thr
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