Canonical Allele Identifier: CA133873
Gene: DES HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219420544A>T
GRCh37 chr2:g.220285266A>T
Revel Score:
ENST00000373960 (MANE Select) 0.855
gnomAD v2:
2:220285266 A / T
gnomAD v3:
2:219420544 A / T
gnomAD v4:
chr2-219420544-A-T
Joint Max Group AF 0.00222588 (AFR)
Genomes Max Group AF 0.00209212 (AFR)
Exomes Max Group AF 0.00213065 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420544A>T , CM000664.2:g.219420544A>T GRCh38
NC_000002.11:g.220285266A>T , CM000664.1:g.220285266A>T GRCh37
NC_000002.10:g.219993510A>T NCBI36
NG_008043.1:g.7168A>T , LRG_380:g.7168A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.259A>T
ENST00000683013.1:n.173A>T
ENST00000373960.4:c.785A>T MANE Select ENSP00000363071.3:p.Glu262Val
ENST00000373960.3:c.785A>T ENSP00000363071.3:p.Glu262Val
ENST00000477226.5:n.257A>T
ENST00000492726.1:n.180A>T
NM_001927.3:c.785A>T , LRG_380t1:c.785A>T NP_001918.3:p.Glu262Val
NM_001927.4:c.785A>T MANE Select NP_001918.3:p.Glu262Val
NM_001382708.1:c.782A>T NP_001369637.1:p.Glu261Val
NM_001382709.1:c.735+198A>T NP_001369638.1:n.735+198A>T
NM_001382710.1:c.785A>T NP_001369639.1:p.Glu262Val
NM_001382711.1:c.785A>T NP_001369640.1:p.Glu262Val
NM_001382712.1:c.785A>T NP_001369641.1:p.Glu262Val
NM_001382713.1:c.515A>T NP_001369642.1:p.Glu172Val
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