Canonical Allele Identifier: CA1486041
Gene: DESI2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.244705772C>T
GRCh37 chr1:g.244869074C>T
Revel Score:
ENST00000302550 (MANE Select) 0.141
ENST00000263831 0.141
gnomAD v2:
1:244869074 C / T
gnomAD v3:
1:244705772 C / T
gnomAD v4:
chr1-244705772-C-T
Joint Max Group AF 0.00010973 (SAS)
Genomes Max Group AF 0.00016898 (SAS)
Exomes Max Group AF 0.00008887 (SAS)
ClinVar Allele:
2717557
ClinVar RCV:
RCV004330279
ClinVar Variation:
2562715
dbSNP:
141603902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244705772C>T , CM000663.2:g.244705772C>T GRCh38
NC_000001.10:g.244869074C>T , CM000663.1:g.244869074C>T GRCh37
NC_000001.9:g.242935697C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302550.16:c.568C>T MANE Select ENSP00000306528.11:p.Arg190Cys
ENST00000263831.11:c.469C>T ENSP00000263831.7:p.Arg157Cys
ENST00000302550.15:c.568C>T ENSP00000306528.11:p.Arg190Cys
NM_001297746.1:c.469C>T NP_001284675.1:p.Arg157Cys
NM_016076.4:c.568C>T NP_057160.2:p.Arg190Cys
NR_123735.1:n.829C>T
NR_123736.1:n.740C>T
XM_011544203.1:c.619C>T XP_011542505.1:p.Arg207Cys
XM_011544204.1:c.601C>T XP_011542506.1:p.Arg201Cys
XM_011544205.1:c.547C>T XP_011542507.1:p.Arg183Cys
XM_011544206.1:c.520C>T XP_011542508.1:p.Arg174Cys
XM_011544207.1:c.448C>T XP_011542509.1:p.Arg150Cys
XM_011544203.3:c.619C>T XP_011542505.1:p.Arg207Cys
XM_011544205.3:c.547C>T XP_011542507.1:p.Arg183Cys
XM_011544206.3:c.520C>T XP_011542508.1:p.Arg174Cys
XM_011544207.2:c.448C>T XP_011542509.1:p.Arg150Cys
NM_016076.5:c.568C>T MANE Select NP_057160.2:p.Arg190Cys
NM_001297746.2:c.469C>T NP_001284675.1:p.Arg157Cys
NR_123735.2:n.751C>T
NR_123736.2:n.662C>T
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