Canonical Allele Identifier: CA510174052
Gene: MYLK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.30408020C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820217C>G , CM000682.2:g.31820217C>G GRCh38
NC_000020.10:g.30408020C>G , CM000682.1:g.30408020C>G GRCh37
NC_000020.9:g.29871681C>G NCBI36
NG_012847.1:g.5843C>G , LRG_392:g.5843C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.144C>G MANE Select ENSP00000365152.4:p.Pro48=
ENST00000375985.4:c.144C>G ENSP00000365152.4:p.Pro48=
ENST00000375994.6:c.144C>G ENSP00000365162.2:p.Pro48=
NM_033118.3:c.144C>G , LRG_392t1:c.144C>G NP_149109.1:p.Pro48=
XR_244155.1:n.309C>G
NM_033118.4:c.144C>G MANE Select NP_149109.1:p.Pro48=