Canonical Allele Identifier: CA350694726

Gene: DES

Linked Data

• ClinVar Variation Id: 1715686
• ClinVar RCV Id: RCV002304608
• gnomAD v4: 2-219421482-A-G
• MyVariant Identifiers: chr2:g.220286204A>G (hg19) ; chr2:g.219421482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421482A>G , CM000664.2:g.219421482A>G	GRCh38
NC_000002.11:g.220286204A>G , CM000664.1:g.220286204A>G	GRCh37
NC_000002.10:g.219994448A>G	NCBI36
NG_008043.1:g.8106A>G , LRG_380:g.8106A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.640A>G
ENST00000683013.1:n.554A>G
ENST00000373960.4:c.1166A>G MANE Select	ENSP00000363071.3:p.Gln389Arg
ENST00000373960.3:c.1166A>G	ENSP00000363071.3:p.Gln389Arg
ENST00000477226.5:n.638A>G
ENST00000492726.1:n.561A>G
NM_001927.3:c.1166A>G , LRG_380t1:c.1166A>G	NP_001918.3:p.Gln389Arg
NM_001927.4:c.1166A>G MANE Select	NP_001918.3:p.Gln389Arg
NM_001382708.1:c.1163A>G	NP_001369637.1:p.Gln388Arg
NM_001382709.1:c.736-2A>G	NP_001369638.1:n.736-2A>G
NM_001382710.1:c.1097A>G	NP_001369639.1:p.Gln366Arg
NM_001382711.1:c.1145A>G	NP_001369640.1:p.Gln382Arg
NM_001382712.1:c.1166A>G	NP_001369641.1:p.Gln389Arg
NM_001382713.1:c.896A>G	NP_001369642.1:p.Gln299Arg