Canonical Allele Identifier: CA743586724
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs1190863527
gnomAD v4: 20-31820019-G-A
MyVariant Identifiers: chr20:g.30407822G>A (hg19) chr20:g.31820019G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820019G>A , CM000682.2:g.31820019G>A GRCh38
NC_000020.10:g.30407822G>A , CM000682.1:g.30407822G>A GRCh37
NC_000020.9:g.29871483G>A NCBI36
NG_012847.1:g.5645G>A , LRG_392:g.5645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.53-107G>A MANE Select ENSP00000365152.4:n.53-107G>A
ENST00000375985.4:c.53-107G>A ENSP00000365152.4:n.53-107G>A
ENST00000375994.6:c.53-107G>A ENSP00000365162.2:n.53-107G>A
NM_033118.3:c.53-107G>A , LRG_392t1:c.53-107G>A NP_149109.1:n.53-107G>A
XR_244155.1:n.218-107G>A
NM_033118.4:c.53-107G>A MANE Select NP_149109.1:n.53-107G>A
Search 100 bp 5'
Search 100 bp 3'