Canonical Allele Identifier: CA217057

Gene: DES

Linked Data

• ClinVar Variation Id: 66407
• ClinVar RCV Id: RCV000056795
• dbSNP Id: rs267607487
• MyVariant Identifiers: chr2:g.220290704G>A (hg19) ; chr2:g.219425982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425982G>A , CM000664.2:g.219425982G>A	GRCh38
NC_000002.11:g.220290704G>A , CM000664.1:g.220290704G>A	GRCh37
NC_000002.10:g.219998948G>A	NCBI36
NG_008043.1:g.12606G>A , LRG_380:g.12606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.879G>A
ENST00000683013.1:n.793G>A
ENST00000373960.4:c.1405G>A MANE Select	ENSP00000363071.3:p.Val469Met
ENST00000373960.3:c.1405G>A	ENSP00000363071.3:p.Val469Met
ENST00000483395.1:n.260G>A
NM_001927.3:c.1405G>A , LRG_380t1:c.1405G>A	NP_001918.3:p.Val469Met
NM_001927.4:c.1405G>A MANE Select	NP_001918.3:p.Val469Met
NM_001382708.1:c.1402G>A	NP_001369637.1:p.Val468Met
NM_001382709.1:c.973G>A	NP_001369638.1:p.Val325Met
NM_001382710.1:c.1336G>A	NP_001369639.1:p.Val446Met
NM_001382711.1:c.1384G>A	NP_001369640.1:p.Val462Met
NM_001382712.1:c.1371+237G>A	NP_001369641.1:n.1371+237G>A
NM_001382713.1:c.1135G>A	NP_001369642.1:p.Val379Met