Canonical Allele Identifier: CA350694085

Gene: DES

Linked Data

• ClinVar Variation Id: 2178066
• ClinVar RCV Id: RCV002588503
• gnomAD v4: 2-219421401-G-A
• MyVariant Identifiers: chr2:g.220286123G>A (hg19) ; chr2:g.219421401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421401G>A , CM000664.2:g.219421401G>A	GRCh38
NC_000002.11:g.220286123G>A , CM000664.1:g.220286123G>A	GRCh37
NC_000002.10:g.219994367G>A	NCBI36
NG_008043.1:g.8025G>A , LRG_380:g.8025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.559G>A
ENST00000683013.1:n.473G>A
ENST00000373960.4:c.1085G>A MANE Select	ENSP00000363071.3:p.Gly362Asp
ENST00000373960.3:c.1085G>A	ENSP00000363071.3:p.Gly362Asp
ENST00000477226.5:n.557G>A
ENST00000492726.1:n.480G>A
NM_001927.3:c.1085G>A , LRG_380t1:c.1085G>A	NP_001918.3:p.Gly362Asp
NM_001927.4:c.1085G>A MANE Select	NP_001918.3:p.Gly362Asp
NM_001382708.1:c.1082G>A	NP_001369637.1:p.Gly361Asp
NM_001382709.1:c.736-83G>A	NP_001369638.1:n.736-83G>A
NM_001382710.1:c.1024-8G>A	NP_001369639.1:n.1024-8G>A
NM_001382711.1:c.1064G>A	NP_001369640.1:p.Gly355Asp
NM_001382712.1:c.1085G>A	NP_001369641.1:p.Gly362Asp
NM_001382713.1:c.815G>A	NP_001369642.1:p.Gly272Asp