Canonical Allele Identifier: CA133829

Gene: DES

Linked Data

• ClinVar Variation Id: 44253
• ClinVar RCV Id: RCV000037233 ; RCV000725821 ; RCV001078786 ; RCV002390149
• dbSNP Id: rs397516691
• ExAC: 2:220290703 A / G
• gnomAD v2: 2-220290703-A-G
• gnomAD v4: 2-219425981-A-G
• MyVariant Identifiers: chr2:g.220290703A>G (hg19) ; chr2:g.219425981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425981A>G , CM000664.2:g.219425981A>G	GRCh38
NC_000002.11:g.220290703A>G , CM000664.1:g.220290703A>G	GRCh37
NC_000002.10:g.219998947A>G	NCBI36
NG_008043.1:g.12605A>G , LRG_380:g.12605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.878A>G
ENST00000683013.1:n.792A>G
ENST00000373960.4:c.1404A>G MANE Select	ENSP00000363071.3:p.Glu468=
ENST00000373960.3:c.1404A>G	ENSP00000363071.3:p.Glu468=
ENST00000483395.1:n.259A>G
NM_001927.3:c.1404A>G , LRG_380t1:c.1404A>G	NP_001918.3:p.Glu468=
NM_001927.4:c.1404A>G MANE Select	NP_001918.3:p.Glu468=
NM_001382708.1:c.1401A>G	NP_001369637.1:p.Glu467=
NM_001382709.1:c.972A>G	NP_001369638.1:p.Glu324=
NM_001382710.1:c.1335A>G	NP_001369639.1:p.Glu445=
NM_001382711.1:c.1383A>G	NP_001369640.1:p.Glu461=
NM_001382712.1:c.1371+236A>G	NP_001369641.1:n.1371+236A>G
NM_001382713.1:c.1134A>G	NP_001369642.1:p.Glu378=