Canonical Allele Identifier: CA408524824

Gene: MYLK2

Linked Data

• gnomAD v4: 20-31820125-G-T
• MyVariant Identifiers: chr20:g.30407928G>T (hg19) ; chr20:g.31820125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820125G>T , CM000682.2:g.31820125G>T	GRCh38
NC_000020.10:g.30407928G>T , CM000682.1:g.30407928G>T	GRCh37
NC_000020.9:g.29871589G>T	NCBI36
NG_012847.1:g.5751G>T , LRG_392:g.5751G>T

Transcript Alleles

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