Canonical Allele Identifier: CA133847
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 44259
ClinVar RCV Id: RCV000037239 RCV000183371 RCV000547988 RCV000852536
dbSNP Id: rs397516694
MyVariant Identifiers: chr2:g.220283564G>C (hg19) chr2:g.219418842G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418842G>C , CM000664.2:g.219418842G>C GRCh38
NC_000002.11:g.220283564G>C , CM000664.1:g.220283564G>C GRCh37
NC_000002.10:g.219991808G>C NCBI36
NG_008043.1:g.5466G>C , LRG_380:g.5466G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.380G>C MANE Select ENSP00000363071.3:p.Arg127Pro
ENST00000373960.3:c.380G>C ENSP00000363071.3:p.Arg127Pro
NM_001927.3:c.380G>C , LRG_380t1:c.380G>C NP_001918.3:p.Arg127Pro
NM_001927.4:c.380G>C MANE Select NP_001918.3:p.Arg127Pro
NM_001382708.1:c.380G>C NP_001369637.1:p.Arg127Pro
NM_001382709.1:c.380G>C NP_001369638.1:p.Arg127Pro
NM_001382710.1:c.380G>C NP_001369639.1:p.Arg127Pro
NM_001382711.1:c.380G>C NP_001369640.1:p.Arg127Pro
NM_001382712.1:c.380G>C NP_001369641.1:p.Arg127Pro
NM_001382713.1:c.380G>C NP_001369642.1:p.Arg127Pro
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