Canonical Allele Identifier: CA133886
Gene: DES HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219420865A>C
GRCh37 chr2:g.220285587A>C
Revel Score:
ENST00000373960 (MANE Select) 0.721
gnomAD v2:
2:220285587 A / C
gnomAD v3:
2:219420865 A / C
gnomAD v4:
chr2-219420865-A-C
Joint Max Group AF 0.00278058 (AFR)
Genomes Max Group AF 0.00247205 (AFR)
Exomes Max Group AF 0.00286993 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420865A>C , CM000664.2:g.219420865A>C GRCh38
NC_000002.11:g.220285587A>C , CM000664.1:g.220285587A>C GRCh37
NC_000002.10:g.219993831A>C NCBI36
NG_008043.1:g.7489A>C , LRG_380:g.7489A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.409A>C
ENST00000683013.1:n.323A>C
ENST00000373960.4:c.935A>C MANE Select ENSP00000363071.3:p.Asp312Ala
ENST00000373960.3:c.935A>C ENSP00000363071.3:p.Asp312Ala
ENST00000477226.5:n.407A>C
ENST00000492726.1:n.330A>C
NM_001927.3:c.935A>C , LRG_380t1:c.935A>C NP_001918.3:p.Asp312Ala
NM_001927.4:c.935A>C MANE Select NP_001918.3:p.Asp312Ala
NM_001382708.1:c.932A>C NP_001369637.1:p.Asp311Ala
NM_001382709.1:c.735+519A>C NP_001369638.1:n.735+519A>C
NM_001382710.1:c.935A>C NP_001369639.1:p.Asp312Ala
NM_001382711.1:c.935A>C NP_001369640.1:p.Asp312Ala
NM_001382712.1:c.935A>C NP_001369641.1:p.Asp312Ala
NM_001382713.1:c.665A>C NP_001369642.1:p.Asp222Ala
Search 100 bp 5'
Search 100 bp 3'