Canonical Allele Identifier: CA217007
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 66390
ClinVar RCV Id: RCV000056769 RCV000239682
dbSNP Id: rs58898021
MyVariant Identifiers: chr2:g.220286107G>C (hg19) chr2:g.219421385G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421385G>C , CM000664.2:g.219421385G>C GRCh38
NC_000002.11:g.220286107G>C , CM000664.1:g.220286107G>C GRCh37
NC_000002.10:g.219994351G>C NCBI36
NG_008043.1:g.8009G>C , LRG_380:g.8009G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.543G>C
ENST00000683013.1:n.457G>C
ENST00000373960.4:c.1069G>C MANE Select ENSP00000363071.3:p.Ala357Pro
ENST00000373960.3:c.1069G>C ENSP00000363071.3:p.Ala357Pro
ENST00000477226.5:n.541G>C
ENST00000492726.1:n.464G>C
NM_001927.3:c.1069G>C , LRG_380t1:c.1069G>C NP_001918.3:p.Ala357Pro
NM_001927.4:c.1069G>C MANE Select NP_001918.3:p.Ala357Pro
NM_001382708.1:c.1066G>C NP_001369637.1:p.Ala356Pro
NM_001382709.1:c.736-99G>C NP_001369638.1:n.736-99G>C
NM_001382710.1:c.1024-24G>C NP_001369639.1:n.1024-24G>C
NM_001382711.1:c.1048G>C NP_001369640.1:p.Ala350Pro
NM_001382712.1:c.1069G>C NP_001369641.1:p.Ala357Pro
NM_001382713.1:c.799G>C NP_001369642.1:p.Ala267Pro
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