Canonical Allele Identifier: CA2125317

Gene: DES

Linked Data

• dbSNP Id: rs762635412
• ExAC: 2:220290671 G / A
• gnomAD v2: 2-220290671-G-A
• gnomAD v3: 2-219425949-G-A
• gnomAD v4: 2-219425949-G-A
• MyVariant Identifiers: chr2:g.220290671G>A (hg19) ; chr2:g.219425949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425949G>A , CM000664.2:g.219425949G>A	GRCh38
NC_000002.11:g.220290671G>A , CM000664.1:g.220290671G>A	GRCh37
NC_000002.10:g.219998915G>A	NCBI36
NG_008043.1:g.12573G>A , LRG_380:g.12573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846G>A
ENST00000683013.1:n.760G>A
ENST00000373960.4:c.1372G>A MANE Select	ENSP00000363071.3:p.Val458Ile
ENST00000373960.3:c.1372G>A	ENSP00000363071.3:p.Val458Ile
ENST00000483395.1:n.227G>A
NM_001927.3:c.1372G>A , LRG_380t1:c.1372G>A	NP_001918.3:p.Val458Ile
NM_001927.4:c.1372G>A MANE Select	NP_001918.3:p.Val458Ile
NM_001382708.1:c.1369G>A	NP_001369637.1:p.Val457Ile
NM_001382709.1:c.940G>A	NP_001369638.1:p.Val314Ile
NM_001382710.1:c.1303G>A	NP_001369639.1:p.Val435Ile
NM_001382711.1:c.1351G>A	NP_001369640.1:p.Val451Ile
NM_001382712.1:c.1371+204G>A	NP_001369641.1:n.1371+204G>A
NM_001382713.1:c.1102G>A	NP_001369642.1:p.Val368Ile