Canonical Allele Identifier: CA2125230
Gene: DES HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219421365G>A
GRCh37 chr2:g.220286087G>A
Revel Score:
ENST00000373960 (MANE Select) 0.813
gnomAD v2:
2:220286087 G / A
gnomAD v3:
2:219421365 G / A
gnomAD v4:
chr2-219421365-G-A
Joint Max Group AF 0.00004101 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004092 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421365G>A , CM000664.2:g.219421365G>A GRCh38
NC_000002.11:g.220286087G>A , CM000664.1:g.220286087G>A GRCh37
NC_000002.10:g.219994331G>A NCBI36
NG_008043.1:g.7989G>A , LRG_380:g.7989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.523G>A
ENST00000683013.1:n.437G>A
ENST00000373960.4:c.1049G>A MANE Select ENSP00000363071.3:p.Arg350Gln
ENST00000373960.3:c.1049G>A ENSP00000363071.3:p.Arg350Gln
ENST00000477226.5:n.521G>A
ENST00000492726.1:n.444G>A
NM_001927.3:c.1049G>A , LRG_380t1:c.1049G>A NP_001918.3:p.Arg350Gln
NM_001927.4:c.1049G>A MANE Select NP_001918.3:p.Arg350Gln
NM_001382708.1:c.1046G>A NP_001369637.1:p.Arg349Gln
NM_001382709.1:c.736-119G>A NP_001369638.1:n.736-119G>A
NM_001382710.1:c.1024-44G>A NP_001369639.1:n.1024-44G>A
NM_001382711.1:c.1028G>A NP_001369640.1:p.Arg343Gln
NM_001382712.1:c.1049G>A NP_001369641.1:p.Arg350Gln
NM_001382713.1:c.779G>A NP_001369642.1:p.Arg260Gln
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