Canonical Allele Identifier: CA408524823

Gene: MYLK2

Linked Data

• MyVariant Identifiers: chr20:g.30407927A>T (hg19) ; chr20:g.31820124A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820124A>T , CM000682.2:g.31820124A>T	GRCh38
NC_000020.10:g.30407927A>T , CM000682.1:g.30407927A>T	GRCh37
NC_000020.9:g.29871588A>T	NCBI36
NG_012847.1:g.5750A>T , LRG_392:g.5750A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.53-2A>T MANE Select	ENSP00000365152.4:n.53-2A>T
ENST00000375985.4:c.53-2A>T	ENSP00000365152.4:n.53-2A>T
ENST00000375994.6:c.53-2A>T	ENSP00000365162.2:n.53-2A>T
NM_033118.3:c.53-2A>T , LRG_392t1:c.53-2A>T	NP_149109.1:n.53-2A>T
XR_244155.1:n.218-2A>T
NM_033118.4:c.53-2A>T MANE Select	NP_149109.1:n.53-2A>T