Canonical Allele Identifier: CA257646
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 16826
ClinVar RCV Id: RCV001787806 RCV001798009
dbSNP Id: rs121913003
MyVariant Identifiers: chr2:g.220286254C>T (hg19) chr2:g.219421532C>T (hg38)
PubMed: PMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 PMID:22153487 PMID:27854218
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421532C>T , CM000664.2:g.219421532C>T GRCh38
NC_000002.11:g.220286254C>T , CM000664.1:g.220286254C>T GRCh37
NC_000002.10:g.219994498C>T NCBI36
NG_008043.1:g.8156C>T , LRG_380:g.8156C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.690C>T
ENST00000683013.1:n.604C>T
ENST00000373960.4:c.1216C>T MANE Select ENSP00000363071.3:p.Arg406Trp
ENST00000373960.3:c.1216C>T ENSP00000363071.3:p.Arg406Trp
ENST00000477226.5:n.688C>T
ENST00000492726.1:n.611C>T
NM_001927.3:c.1216C>T , LRG_380t1:c.1216C>T NP_001918.3:p.Arg406Trp
NM_001927.4:c.1216C>T MANE Select NP_001918.3:p.Arg406Trp
NM_001382708.1:c.1213C>T NP_001369637.1:p.Arg405Trp
NM_001382709.1:c.784C>T NP_001369638.1:p.Arg262Trp
NM_001382710.1:c.1147C>T NP_001369639.1:p.Arg383Trp
NM_001382711.1:c.1195C>T NP_001369640.1:p.Arg399Trp
NM_001382712.1:c.1216C>T NP_001369641.1:p.Arg406Trp
NM_001382713.1:c.946C>T NP_001369642.1:p.Arg316Trp
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