Canonical Allele Identifier: CA335260
Gene: MYLK2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.31826918G>T
GRCh37 chr20:g.30414721G>T
Revel Score:
ENST00000375994 0.617
ENST00000375985 (MANE Select) 0.617
gnomAD v2:
20:30414721 G / T
gnomAD v3:
20:31826918 G / T
gnomAD v4:
chr20-31826918-G-T
Joint Max Group AF 0.00149443 (AMR)
Genomes Max Group AF 0.00030724 (AMR)
Exomes Max Group AF 0.00181967 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31826918G>T , CM000682.2:g.31826918G>T GRCh38
NC_000020.10:g.30414721G>T , CM000682.1:g.30414721G>T GRCh37
NC_000020.9:g.29878382G>T NCBI36
NG_012847.1:g.12544G>T , LRG_392:g.12544G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.1204G>T MANE Select ENSP00000365152.4:p.Val402Phe
ENST00000375985.4:c.1204G>T ENSP00000365152.4:p.Val402Phe
ENST00000375994.6:c.1204G>T ENSP00000365162.2:p.Val402Phe
ENST00000468730.1:n.142G>T
NM_033118.3:c.1204G>T , LRG_392t1:c.1204G>T NP_149109.1:p.Val402Phe
XR_244155.1:n.1855G>T
NM_033118.4:c.1204G>T MANE Select NP_149109.1:p.Val402Phe
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