Canonical Allele Identifier: CA10576590

Gene: DES

Linked Data

• ClinVar Variation Id: 228551
• ClinVar RCV Id: RCV000221598 ; RCV000804446
• dbSNP Id: rs876657771
• gnomAD v2: 2-220285334-G-A
• gnomAD v3: 2-219420612-G-A
• gnomAD v4: 2-219420612-G-A
• COSMIC: COSM1016734
• MyVariant Identifiers: chr2:g.220285334G>A (hg19) ; chr2:g.219420612G>A (hg38)
• PubMed: PMID:23300193

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420612G>A , CM000664.2:g.219420612G>A	GRCh38
NC_000002.11:g.220285334G>A , CM000664.1:g.220285334G>A	GRCh37
NC_000002.10:g.219993578G>A	NCBI36
NG_008043.1:g.7236G>A , LRG_380:g.7236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.327G>A
ENST00000683013.1:n.241G>A
ENST00000373960.4:c.853G>A MANE Select	ENSP00000363071.3:p.Ala285Thr
ENST00000373960.3:c.853G>A	ENSP00000363071.3:p.Ala285Thr
ENST00000477226.5:n.325G>A
ENST00000492726.1:n.248G>A
NM_001927.3:c.853G>A , LRG_380t1:c.853G>A	NP_001918.3:p.Ala285Thr
NM_001927.4:c.853G>A MANE Select	NP_001918.3:p.Ala285Thr
NM_001382708.1:c.850G>A	NP_001369637.1:p.Ala284Thr
NM_001382709.1:c.735+266G>A	NP_001369638.1:n.735+266G>A
NM_001382710.1:c.853G>A	NP_001369639.1:p.Ala285Thr
NM_001382711.1:c.853G>A	NP_001369640.1:p.Ala285Thr
NM_001382712.1:c.853G>A	NP_001369641.1:p.Ala285Thr
NM_001382713.1:c.583G>A	NP_001369642.1:p.Ala195Thr