Canonical Allele Identifier: CA313849440
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs868012092
gnomAD v4: 20-31820153-A-C
MyVariant Identifiers: chr20:g.30407956A>C (hg19) chr20:g.31820153A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820153A>C , CM000682.2:g.31820153A>C GRCh38
NC_000020.10:g.30407956A>C , CM000682.1:g.30407956A>C GRCh37
NC_000020.9:g.29871617A>C NCBI36
NG_012847.1:g.5779A>C , LRG_392:g.5779A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.80A>C MANE Select ENSP00000365152.4:p.Glu27Ala
ENST00000375985.4:c.80A>C ENSP00000365152.4:p.Glu27Ala
ENST00000375994.6:c.80A>C ENSP00000365162.2:p.Glu27Ala
NM_033118.3:c.80A>C , LRG_392t1:c.80A>C NP_149109.1:p.Glu27Ala
XR_244155.1:n.245A>C
NM_033118.4:c.80A>C MANE Select NP_149109.1:p.Glu27Ala
Search 100 bp 5'
Search 100 bp 3'