Canonical Allele Identifier: CA350691339

Gene: DES

Linked Data

• ClinVar Variation Id: 1058928
• ClinVar RCV Id: RCV001368119
• dbSNP Id: rs1436186019
• MyVariant Identifiers: chr2:g.220285307G>A (hg19) ; chr2:g.219420585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420585G>A , CM000664.2:g.219420585G>A	GRCh38
NC_000002.11:g.220285307G>A , CM000664.1:g.220285307G>A	GRCh37
NC_000002.10:g.219993551G>A	NCBI36
NG_008043.1:g.7209G>A , LRG_380:g.7209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.300G>A
ENST00000683013.1:n.214G>A
ENST00000373960.4:c.826G>A MANE Select	ENSP00000363071.3:p.Asp276Asn
ENST00000373960.3:c.826G>A	ENSP00000363071.3:p.Asp276Asn
ENST00000477226.5:n.298G>A
ENST00000492726.1:n.221G>A
NM_001927.3:c.826G>A , LRG_380t1:c.826G>A	NP_001918.3:p.Asp276Asn
NM_001927.4:c.826G>A MANE Select	NP_001918.3:p.Asp276Asn
NM_001382708.1:c.823G>A	NP_001369637.1:p.Asp275Asn
NM_001382709.1:c.735+239G>A	NP_001369638.1:n.735+239G>A
NM_001382710.1:c.826G>A	NP_001369639.1:p.Asp276Asn
NM_001382711.1:c.826G>A	NP_001369640.1:p.Asp276Asn
NM_001382712.1:c.826G>A	NP_001369641.1:p.Asp276Asn
NM_001382713.1:c.556G>A	NP_001369642.1:p.Asp186Asn