Canonical Allele Identifier: CA408524866
Gene: MYLK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820144C>T , CM000682.2:g.31820144C>T GRCh38
NC_000020.10:g.30407947C>T , CM000682.1:g.30407947C>T GRCh37
NC_000020.9:g.29871608C>T NCBI36
NG_012847.1:g.5770C>T , LRG_392:g.5770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.71C>T MANE Select ENSP00000365152.4:p.Pro24Leu
ENST00000375985.4:c.71C>T ENSP00000365152.4:p.Pro24Leu
ENST00000375994.6:c.71C>T ENSP00000365162.2:p.Pro24Leu
NM_033118.3:c.71C>T , LRG_392t1:c.71C>T NP_149109.1:p.Pro24Leu
XR_244155.1:n.236C>T
NM_033118.4:c.71C>T MANE Select NP_149109.1:p.Pro24Leu