Canonical Allele Identifier: CA261522

Gene: DES

Linked Data

• ClinVar Variation Id: 44268
• ClinVar RCV Id: RCV000393713 ; RCV001220792
• dbSNP Id: rs397516698
• MyVariant Identifiers: chr2:g.220285069G>A (hg19) ; chr2:g.219420347G>A (hg38)
• PubMed: PMID:11073539 ; PMID:14724127 ; PMID:22484823 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420347G>A , CM000664.2:g.219420347G>A	GRCh38
NC_000002.11:g.220285069G>A , CM000664.1:g.220285069G>A	GRCh37
NC_000002.10:g.219993313G>A	NCBI36
NG_008043.1:g.6971G>A , LRG_380:g.6971G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.209+1G>A
ENST00000683013.1:n.123+1G>A
ENST00000373960.4:c.735+1G>A MANE Select	ENSP00000363071.3:n.735+1G>A
ENST00000373960.3:c.735+1G>A	ENSP00000363071.3:n.735+1G>A
ENST00000477226.5:n.207+1G>A
ENST00000492726.1:n.130+1G>A
NM_001927.3:c.735+1G>A , LRG_380t1:c.735+1G>A	NP_001918.3:n.735+1G>A
NM_001927.4:c.735+1G>A MANE Select	NP_001918.3:n.735+1G>A
NM_001382708.1:c.732+1G>A	NP_001369637.1:n.732+1G>A
NM_001382709.1:c.735+1G>A	NP_001369638.1:n.735+1G>A
NM_001382710.1:c.735+1G>A	NP_001369639.1:n.735+1G>A
NM_001382711.1:c.735+1G>A	NP_001369640.1:n.735+1G>A
NM_001382712.1:c.735+1G>A	NP_001369641.1:n.735+1G>A
NM_001382713.1:c.496-178G>A	NP_001369642.1:n.496-178G>A