Canonical Allele Identifier: CA408524948
Gene: MYLK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.30407991C>G (hg19) chr20:g.31820188C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820188C>G , CM000682.2:g.31820188C>G GRCh38
NC_000020.10:g.30407991C>G , CM000682.1:g.30407991C>G GRCh37
NC_000020.9:g.29871652C>G NCBI36
NG_012847.1:g.5814C>G , LRG_392:g.5814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.115C>G MANE Select ENSP00000365152.4:p.Pro39Ala
ENST00000375985.4:c.115C>G ENSP00000365152.4:p.Pro39Ala
ENST00000375994.6:c.115C>G ENSP00000365162.2:p.Pro39Ala
NM_033118.3:c.115C>G , LRG_392t1:c.115C>G NP_149109.1:p.Pro39Ala
XR_244155.1:n.280C>G
NM_033118.4:c.115C>G MANE Select NP_149109.1:p.Pro39Ala
Search 100 bp 5'
Search 100 bp 3'