Canonical Allele Identifier: CA350685499
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 854289
ClinVar RCV Id: RCV001059305
dbSNP Id: rs1954373010
MyVariant Identifiers: chr2:g.220283543C>A (hg19) chr2:g.219418821C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418821C>A , CM000664.2:g.219418821C>A GRCh38
NC_000002.11:g.220283543C>A , CM000664.1:g.220283543C>A GRCh37
NC_000002.10:g.219991787C>A NCBI36
NG_008043.1:g.5445C>A , LRG_380:g.5445C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.359C>A MANE Select ENSP00000363071.3:p.Ala120Asp
ENST00000373960.3:c.359C>A ENSP00000363071.3:p.Ala120Asp
NM_001927.3:c.359C>A , LRG_380t1:c.359C>A NP_001918.3:p.Ala120Asp
NM_001927.4:c.359C>A MANE Select NP_001918.3:p.Ala120Asp
NM_001382708.1:c.359C>A NP_001369637.1:p.Ala120Asp
NM_001382709.1:c.359C>A NP_001369638.1:p.Ala120Asp
NM_001382710.1:c.359C>A NP_001369639.1:p.Ala120Asp
NM_001382711.1:c.359C>A NP_001369640.1:p.Ala120Asp
NM_001382712.1:c.359C>A NP_001369641.1:p.Ala120Asp
NM_001382713.1:c.359C>A NP_001369642.1:p.Ala120Asp
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