Canonical Allele Identifier: CA431285601

Gene: DES

Linked Data

• ClinVar Variation Id: 2929222
• ClinVar RCV Id: RCV003781948
• dbSNP Id: rs1397831288
• gnomAD v3: 2-219425733-A-T
• gnomAD v4: 2-219425733-A-T
• MyVariant Identifiers: chr2:g.220290455A>T (hg19) ; chr2:g.219425733A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425733A>T , CM000664.2:g.219425733A>T	GRCh38
NC_000002.11:g.220290455A>T , CM000664.1:g.220290455A>T	GRCh37
NC_000002.10:g.219998699A>T	NCBI36
NG_008043.1:g.12357A>T , LRG_380:g.12357A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.833A>T
ENST00000683013.1:n.747A>T
ENST00000373960.4:c.1359A>T MANE Select	ENSP00000363071.3:p.Thr453=
ENST00000373960.3:c.1359A>T	ENSP00000363071.3:p.Thr453=
ENST00000483395.1:n.214A>T
NM_001927.3:c.1359A>T , LRG_380t1:c.1359A>T	NP_001918.3:p.Thr453=
NM_001927.4:c.1359A>T MANE Select	NP_001918.3:p.Thr453=
NM_001382708.1:c.1356A>T	NP_001369637.1:p.Thr452=
NM_001382709.1:c.927A>T	NP_001369638.1:p.Thr309=
NM_001382710.1:c.1290A>T	NP_001369639.1:p.Thr430=
NM_001382711.1:c.1338A>T	NP_001369640.1:p.Thr446=
NM_001382712.1:c.1359A>T	NP_001369641.1:p.Thr453=
NM_001382713.1:c.1089A>T	NP_001369642.1:p.Thr363=