Canonical Allele Identifier: CA350698634

Gene: DES

Linked Data

• ClinVar Variation Id: 2440746
• ClinVar RCV Id: RCV003146047
• dbSNP Id: rs1954523179
• MyVariant Identifiers: chr2:g.220290438A>G (hg19) ; chr2:g.219425716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425716A>G , CM000664.2:g.219425716A>G	GRCh38
NC_000002.11:g.220290438A>G , CM000664.1:g.220290438A>G	GRCh37
NC_000002.10:g.219998682A>G	NCBI36
NG_008043.1:g.12340A>G , LRG_380:g.12340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.816A>G
ENST00000683013.1:n.730A>G
ENST00000373960.4:c.1342A>G MANE Select	ENSP00000363071.3:p.Ile448Val
ENST00000373960.3:c.1342A>G	ENSP00000363071.3:p.Ile448Val
ENST00000483395.1:n.197A>G
NM_001927.3:c.1342A>G , LRG_380t1:c.1342A>G	NP_001918.3:p.Ile448Val
NM_001927.4:c.1342A>G MANE Select	NP_001918.3:p.Ile448Val
NM_001382708.1:c.1339A>G	NP_001369637.1:p.Ile447Val
NM_001382709.1:c.910A>G	NP_001369638.1:p.Ile304Val
NM_001382710.1:c.1273A>G	NP_001369639.1:p.Ile425Val
NM_001382711.1:c.1321A>G	NP_001369640.1:p.Ile441Val
NM_001382712.1:c.1342A>G	NP_001369641.1:p.Ile448Val
NM_001382713.1:c.1072A>G	NP_001369642.1:p.Ile358Val