Canonical Allele Identifier: CA350686551
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 593020
ClinVar RCV Id: RCV000727946
dbSNP Id: rs1559352425
gnomAD v4: 2-219418938-T-C
MyVariant Identifiers: chr2:g.220283660T>C (hg19) chr2:g.219418938T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418938T>C , CM000664.2:g.219418938T>C GRCh38
NC_000002.11:g.220283660T>C , CM000664.1:g.220283660T>C GRCh37
NC_000002.10:g.219991904T>C NCBI36
NG_008043.1:g.5562T>C , LRG_380:g.5562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.476T>C MANE Select ENSP00000363071.3:p.Leu159Pro
ENST00000373960.3:c.476T>C ENSP00000363071.3:p.Leu159Pro
NM_001927.3:c.476T>C , LRG_380t1:c.476T>C NP_001918.3:p.Leu159Pro
NM_001927.4:c.476T>C MANE Select NP_001918.3:p.Leu159Pro
NM_001382708.1:c.476T>C NP_001369637.1:p.Leu159Pro
NM_001382709.1:c.476T>C NP_001369638.1:p.Leu159Pro
NM_001382710.1:c.476T>C NP_001369639.1:p.Leu159Pro
NM_001382711.1:c.476T>C NP_001369640.1:p.Leu159Pro
NM_001382712.1:c.476T>C NP_001369641.1:p.Leu159Pro
NM_001382713.1:c.476T>C NP_001369642.1:p.Leu159Pro
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