Canonical Allele Identifier: CA350698916

Gene: DES

Linked Data

• ClinVar Variation Id: 2931582
• ClinVar RCV Id: RCV003792604
• dbSNP Id: rs1486500423
• gnomAD v3: 2-219425947-A-G
• gnomAD v4: 2-219425947-A-G
• MyVariant Identifiers: chr2:g.220290669A>G (hg19) ; chr2:g.219425947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425947A>G , CM000664.2:g.219425947A>G	GRCh38
NC_000002.11:g.220290669A>G , CM000664.1:g.220290669A>G	GRCh37
NC_000002.10:g.219998913A>G	NCBI36
NG_008043.1:g.12571A>G , LRG_380:g.12571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-2A>G
ENST00000683013.1:n.760-2A>G
ENST00000373960.4:c.1372-2A>G MANE Select	ENSP00000363071.3:n.1372-2A>G
ENST00000373960.3:c.1372-2A>G	ENSP00000363071.3:n.1372-2A>G
ENST00000483395.1:n.227-2A>G
NM_001927.3:c.1372-2A>G , LRG_380t1:c.1372-2A>G	NP_001918.3:n.1372-2A>G
NM_001927.4:c.1372-2A>G MANE Select	NP_001918.3:n.1372-2A>G
NM_001382708.1:c.1369-2A>G	NP_001369637.1:n.1369-2A>G
NM_001382709.1:c.940-2A>G	NP_001369638.1:n.940-2A>G
NM_001382710.1:c.1303-2A>G	NP_001369639.1:n.1303-2A>G
NM_001382711.1:c.1351-2A>G	NP_001369640.1:n.1351-2A>G
NM_001382712.1:c.1371+202A>G	NP_001369641.1:n.1371+202A>G
NM_001382713.1:c.1102-2A>G	NP_001369642.1:n.1102-2A>G