Canonical Allele Identifier: CA510174118
Gene: MYLK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.30408071C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820268C>A , CM000682.2:g.31820268C>A GRCh38
NC_000020.10:g.30408071C>A , CM000682.1:g.30408071C>A GRCh37
NC_000020.9:g.29871732C>A NCBI36
NG_012847.1:g.5894C>A , LRG_392:g.5894C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375985.5:c.195C>A MANE Select ENSP00000365152.4:p.Thr65=
ENST00000375985.4:c.195C>A ENSP00000365152.4:p.Thr65=
ENST00000375994.6:c.195C>A ENSP00000365162.2:p.Thr65=
NM_033118.3:c.195C>A , LRG_392t1:c.195C>A NP_149109.1:p.Thr65=
XR_244155.1:n.360C>A
NM_033118.4:c.195C>A MANE Select NP_149109.1:p.Thr65=