Canonical Allele Identifier: CA308296
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 201714
ClinVar RCV Id: RCV000183362 RCV000223904 RCV000458158 RCV000622142
dbSNP Id: rs748323823
ExAC: 2:220290468 G / A
gnomAD v2: 2-220290468-G-A
gnomAD v3: 2-219425746-G-A
gnomAD v4: 2-219425746-G-A
MyVariant Identifiers: chr2:g.220290468G>A (hg19) chr2:g.219425746G>A (hg38)
PubMed: PMID:17221859 PMID:23687351 PMID:23815709
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219425746G>A , CM000664.2:g.219425746G>A GRCh38
NC_000002.11:g.220290468G>A , CM000664.1:g.220290468G>A GRCh37
NC_000002.10:g.219998712G>A NCBI36
NG_008043.1:g.12370G>A , LRG_380:g.12370G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.845+1G>A
ENST00000683013.1:n.759+1G>A
ENST00000373960.4:c.1371+1G>A MANE Select ENSP00000363071.3:n.1371+1G>A
ENST00000373960.3:c.1371+1G>A ENSP00000363071.3:n.1371+1G>A
ENST00000483395.1:n.226+1G>A
NM_001927.3:c.1371+1G>A , LRG_380t1:c.1371+1G>A NP_001918.3:n.1371+1G>A
NM_001927.4:c.1371+1G>A MANE Select NP_001918.3:n.1371+1G>A
NM_001382708.1:c.1368+1G>A NP_001369637.1:n.1368+1G>A
NM_001382709.1:c.939+1G>A NP_001369638.1:n.939+1G>A
NM_001382710.1:c.1302+1G>A NP_001369639.1:n.1302+1G>A
NM_001382711.1:c.1350+1G>A NP_001369640.1:n.1350+1G>A
NM_001382712.1:c.1371+1G>A NP_001369641.1:n.1371+1G>A
NM_001382713.1:c.1101+1G>A NP_001369642.1:n.1101+1G>A
Search 100 bp 5'
Search 100 bp 3'