Canonical Allele Identifier: CA350699035

Gene: DES

Linked Data

• ClinVar Variation Id: 2922193
• ClinVar RCV Id: RCV003785407 ; RCV004374385
• dbSNP Id: rs1200509301
• gnomAD v2: 2-220290687-C-T
• MyVariant Identifiers: chr2:g.220290687C>T (hg19) ; chr2:g.219425965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425965C>T , CM000664.2:g.219425965C>T	GRCh38
NC_000002.11:g.220290687C>T , CM000664.1:g.220290687C>T	GRCh37
NC_000002.10:g.219998931C>T	NCBI36
NG_008043.1:g.12589C>T , LRG_380:g.12589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.862C>T
ENST00000683013.1:n.776C>T
ENST00000373960.4:c.1388C>T MANE Select	ENSP00000363071.3:p.Thr463Ile
ENST00000373960.3:c.1388C>T	ENSP00000363071.3:p.Thr463Ile
ENST00000483395.1:n.243C>T
NM_001927.3:c.1388C>T , LRG_380t1:c.1388C>T	NP_001918.3:p.Thr463Ile
NM_001927.4:c.1388C>T MANE Select	NP_001918.3:p.Thr463Ile
NM_001382708.1:c.1385C>T	NP_001369637.1:p.Thr462Ile
NM_001382709.1:c.956C>T	NP_001369638.1:p.Thr319Ile
NM_001382710.1:c.1319C>T	NP_001369639.1:p.Thr440Ile
NM_001382711.1:c.1367C>T	NP_001369640.1:p.Thr456Ile
NM_001382712.1:c.1371+220C>T	NP_001369641.1:n.1371+220C>T
NM_001382713.1:c.1118C>T	NP_001369642.1:p.Thr373Ile