Canonical Allele Identifier: CA9802835
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs374620801
ExAC: 20:30407952 G / T
gnomAD v2: 20-30407952-G-T
gnomAD v3: 20-31820149-G-T
gnomAD v4: 20-31820149-G-T
MyVariant Identifiers: chr20:g.30407952G>T (hg19) chr20:g.31820149G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820149G>T , CM000682.2:g.31820149G>T GRCh38
NC_000020.10:g.30407952G>T , CM000682.1:g.30407952G>T GRCh37
NC_000020.9:g.29871613G>T NCBI36
NG_012847.1:g.5775G>T , LRG_392:g.5775G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.76G>T MANE Select ENSP00000365152.4:p.Gly26Cys
ENST00000375985.4:c.76G>T ENSP00000365152.4:p.Gly26Cys
ENST00000375994.6:c.76G>T ENSP00000365162.2:p.Gly26Cys
NM_033118.3:c.76G>T , LRG_392t1:c.76G>T NP_149109.1:p.Gly26Cys
XR_244155.1:n.241G>T
NM_033118.4:c.76G>T MANE Select NP_149109.1:p.Gly26Cys
Search 100 bp 5'
Search 100 bp 3'