Canonical Allele Identifier: CA408524858
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs1157509610
gnomAD v2: 20-30407943-G-A
gnomAD v3: 20-31820140-G-A
gnomAD v4: 20-31820140-G-A
MyVariant Identifiers: chr20:g.30407943G>A (hg19) chr20:g.31820140G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820140G>A , CM000682.2:g.31820140G>A GRCh38
NC_000020.10:g.30407943G>A , CM000682.1:g.30407943G>A GRCh37
NC_000020.9:g.29871604G>A NCBI36
NG_012847.1:g.5766G>A , LRG_392:g.5766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.67G>A MANE Select ENSP00000365152.4:p.Gly23Ser
ENST00000375985.4:c.67G>A ENSP00000365152.4:p.Gly23Ser
ENST00000375994.6:c.67G>A ENSP00000365162.2:p.Gly23Ser
NM_033118.3:c.67G>A , LRG_392t1:c.67G>A NP_149109.1:p.Gly23Ser
XR_244155.1:n.232G>A
NM_033118.4:c.67G>A MANE Select NP_149109.1:p.Gly23Ser
Search 100 bp 5'
Search 100 bp 3'