Canonical Allele Identifier: CA2125165

Gene: DES

Linked Data

• ClinVar Variation Id: 1114392
• ClinVar RCV Id: RCV001442060 ; RCV002449192
• dbSNP Id: rs139818514
• ExAC: 2:220285336 G / A
• gnomAD v2: 2-220285336-G-A
• gnomAD v3: 2-219420614-G-A
• gnomAD v4: 2-219420614-G-A
• MyVariant Identifiers: chr2:g.220285336G>A (hg19) ; chr2:g.219420614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420614G>A , CM000664.2:g.219420614G>A	GRCh38
NC_000002.11:g.220285336G>A , CM000664.1:g.220285336G>A	GRCh37
NC_000002.10:g.219993580G>A	NCBI36
NG_008043.1:g.7238G>A , LRG_380:g.7238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.329G>A
ENST00000683013.1:n.243G>A
ENST00000373960.4:c.855G>A MANE Select	ENSP00000363071.3:p.Ala285=
ENST00000373960.3:c.855G>A	ENSP00000363071.3:p.Ala285=
ENST00000477226.5:n.327G>A
ENST00000492726.1:n.250G>A
NM_001927.3:c.855G>A , LRG_380t1:c.855G>A	NP_001918.3:p.Ala285=
NM_001927.4:c.855G>A MANE Select	NP_001918.3:p.Ala285=
NM_001382708.1:c.852G>A	NP_001369637.1:p.Ala284=
NM_001382709.1:c.735+268G>A	NP_001369638.1:n.735+268G>A
NM_001382710.1:c.855G>A	NP_001369639.1:p.Ala285=
NM_001382711.1:c.855G>A	NP_001369640.1:p.Ala285=
NM_001382712.1:c.855G>A	NP_001369641.1:p.Ala285=
NM_001382713.1:c.585G>A	NP_001369642.1:p.Ala195=