Canonical Allele Identifier: CA2125162

Gene: DES

Linked Data

• ClinVar Variation Id: 1913006
• ClinVar RCV Id: RCV002593548
• dbSNP Id: rs761475402
• ExAC: 2:220285314 G / A
• gnomAD v2: 2-220285314-G-A
• gnomAD v3: 2-219420592-G-A
• gnomAD v4: 2-219420592-G-A
• MyVariant Identifiers: chr2:g.220285314G>A (hg19) ; chr2:g.219420592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420592G>A , CM000664.2:g.219420592G>A	GRCh38
NC_000002.11:g.220285314G>A , CM000664.1:g.220285314G>A	GRCh37
NC_000002.10:g.219993558G>A	NCBI36
NG_008043.1:g.7216G>A , LRG_380:g.7216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.307G>A
ENST00000683013.1:n.221G>A
ENST00000373960.4:c.833G>A MANE Select	ENSP00000363071.3:p.Arg278Gln
ENST00000373960.3:c.833G>A	ENSP00000363071.3:p.Arg278Gln
ENST00000477226.5:n.305G>A
ENST00000492726.1:n.228G>A
NM_001927.3:c.833G>A , LRG_380t1:c.833G>A	NP_001918.3:p.Arg278Gln
NM_001927.4:c.833G>A MANE Select	NP_001918.3:p.Arg278Gln
NM_001382708.1:c.830G>A	NP_001369637.1:p.Arg277Gln
NM_001382709.1:c.735+246G>A	NP_001369638.1:n.735+246G>A
NM_001382710.1:c.833G>A	NP_001369639.1:p.Arg278Gln
NM_001382711.1:c.833G>A	NP_001369640.1:p.Arg278Gln
NM_001382712.1:c.833G>A	NP_001369641.1:p.Arg278Gln
NM_001382713.1:c.563G>A	NP_001369642.1:p.Arg188Gln