Canonical Allele Identifier: CA078107
Gene: DES HGNC NCBI
COSMIC:
COSM5736428 (not active)
MyVariant.info:
GRCh38 chr2:g.219420254G>A
GRCh37 chr2:g.220284976G>A
Revel Score:
ENST00000373960 (MANE Select) 0.782
gnomAD v2:
2:220284976 G / A
gnomAD v3:
2:219420254 G / A
gnomAD v4:
chr2-219420254-G-A
Joint Max Group AF 0.00037979 (AFR)
Genomes Max Group AF 0.00035887 (AFR)
Exomes Max Group AF 0.00029941 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420254G>A , CM000664.2:g.219420254G>A GRCh38
NC_000002.11:g.220284976G>A , CM000664.1:g.220284976G>A GRCh37
NC_000002.10:g.219993220G>A NCBI36
NG_008043.1:g.6878G>A , LRG_380:g.6878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.117G>A
ENST00000683013.1:n.31G>A
ENST00000373960.4:c.643G>A MANE Select ENSP00000363071.3:p.Val215Met
ENST00000373960.3:c.643G>A ENSP00000363071.3:p.Val215Met
ENST00000477226.5:n.115G>A
ENST00000492726.1:n.38G>A
NM_001927.3:c.643G>A , LRG_380t1:c.643G>A NP_001918.3:p.Val215Met
NM_001927.4:c.643G>A MANE Select NP_001918.3:p.Val215Met
NM_001382708.1:c.640G>A NP_001369637.1:p.Val214Met
NM_001382709.1:c.643G>A NP_001369638.1:p.Val215Met
NM_001382710.1:c.643G>A NP_001369639.1:p.Val215Met
NM_001382711.1:c.643G>A NP_001369640.1:p.Val215Met
NM_001382712.1:c.643G>A NP_001369641.1:p.Val215Met
NM_001382713.1:c.496-271G>A NP_001369642.1:n.496-271G>A
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