Canonical Allele Identifier: CA431285595

Gene: DES

Linked Data

• ClinVar Variation Id: 1911403
• ClinVar RCV Id: RCV002596929
• dbSNP Id: rs1954523399
• gnomAD v4: 2-219425724-C-G
• MyVariant Identifiers: chr2:g.220290446C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425724C>G , CM000664.2:g.219425724C>G	GRCh38
NC_000002.11:g.220290446C>G , CM000664.1:g.220290446C>G	GRCh37
NC_000002.10:g.219998690C>G	NCBI36
NG_008043.1:g.12348C>G , LRG_380:g.12348C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.824C>G
ENST00000683013.1:n.738C>G
ENST00000373960.4:c.1350C>G MANE Select	ENSP00000363071.3:p.Thr450=
ENST00000373960.3:c.1350C>G	ENSP00000363071.3:p.Thr450=
ENST00000483395.1:n.205C>G
NM_001927.3:c.1350C>G , LRG_380t1:c.1350C>G	NP_001918.3:p.Thr450=
NM_001927.4:c.1350C>G MANE Select	NP_001918.3:p.Thr450=
NM_001382708.1:c.1347C>G	NP_001369637.1:p.Thr449=
NM_001382709.1:c.918C>G	NP_001369638.1:p.Thr306=
NM_001382710.1:c.1281C>G	NP_001369639.1:p.Thr427=
NM_001382711.1:c.1329C>G	NP_001369640.1:p.Thr443=
NM_001382712.1:c.1350C>G	NP_001369641.1:p.Thr450=
NM_001382713.1:c.1080C>G	NP_001369642.1:p.Thr360=