Canonical Allele Identifier: CA2125062

Gene: DES

Linked Data

• ClinVar Variation Id: 411147
• ClinVar RCV Id: RCV000470564 ; RCV000484887 ; RCV002489075 ; RCV003168845
• dbSNP Id: rs771499260
• ExAC: 2:220283575 C / A
• gnomAD v2: 2-220283575-C-A
• gnomAD v3: 2-219418853-C-A
• gnomAD v4: 2-219418853-C-A
• MyVariant Identifiers: chr2:g.220283575C>A (hg19) ; chr2:g.219418853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418853C>A , CM000664.2:g.219418853C>A	GRCh38
NC_000002.11:g.220283575C>A , CM000664.1:g.220283575C>A	GRCh37
NC_000002.10:g.219991819C>A	NCBI36
NG_008043.1:g.5477C>A , LRG_380:g.5477C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.391C>A MANE Select	ENSP00000363071.3:p.Gln131Lys
ENST00000373960.3:c.391C>A	ENSP00000363071.3:p.Gln131Lys
NM_001927.3:c.391C>A , LRG_380t1:c.391C>A	NP_001918.3:p.Gln131Lys
NM_001927.4:c.391C>A MANE Select	NP_001918.3:p.Gln131Lys
NM_001382708.1:c.391C>A	NP_001369637.1:p.Gln131Lys
NM_001382709.1:c.391C>A	NP_001369638.1:p.Gln131Lys
NM_001382710.1:c.391C>A	NP_001369639.1:p.Gln131Lys
NM_001382711.1:c.391C>A	NP_001369640.1:p.Gln131Lys
NM_001382712.1:c.391C>A	NP_001369641.1:p.Gln131Lys
NM_001382713.1:c.391C>A	NP_001369642.1:p.Gln131Lys