Canonical Allele Identifier: CA350698956

Gene: DES

Linked Data

• ClinVar Variation Id: 2082240
• ClinVar RCV Id: RCV003007225
• gnomAD v4: 2-219425956-G-A
• COSMIC: COSM1203409
• MyVariant Identifiers: chr2:g.220290678G>A (hg19) ; chr2:g.219425956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425956G>A , CM000664.2:g.219425956G>A	GRCh38
NC_000002.11:g.220290678G>A , CM000664.1:g.220290678G>A	GRCh37
NC_000002.10:g.219998922G>A	NCBI36
NG_008043.1:g.12580G>A , LRG_380:g.12580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.853G>A
ENST00000683013.1:n.767G>A
ENST00000373960.4:c.1379G>A MANE Select	ENSP00000363071.3:p.Ser460Asn
ENST00000373960.3:c.1379G>A	ENSP00000363071.3:p.Ser460Asn
ENST00000483395.1:n.234G>A
NM_001927.3:c.1379G>A , LRG_380t1:c.1379G>A	NP_001918.3:p.Ser460Asn
NM_001927.4:c.1379G>A MANE Select	NP_001918.3:p.Ser460Asn
NM_001382708.1:c.1376G>A	NP_001369637.1:p.Ser459Asn
NM_001382709.1:c.947G>A	NP_001369638.1:p.Ser316Asn
NM_001382710.1:c.1310G>A	NP_001369639.1:p.Ser437Asn
NM_001382711.1:c.1358G>A	NP_001369640.1:p.Ser453Asn
NM_001382712.1:c.1371+211G>A	NP_001369641.1:n.1371+211G>A
NM_001382713.1:c.1109G>A	NP_001369642.1:p.Ser370Asn