Canonical Allele Identifier: CA217036

Gene: DES

Linked Data

• ClinVar Variation Id: 16834
• ClinVar RCV Id: RCV000056784 ; RCV000811753
• dbSNP Id: rs121913005
• MyVariant Identifiers: chr2:g.220290421C>T (hg19) ; chr2:g.219425699C>T (hg38)
• PubMed: PMID:17221859 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425699C>T , CM000664.2:g.219425699C>T	GRCh38
NC_000002.11:g.220290421C>T , CM000664.1:g.220290421C>T	GRCh37
NC_000002.10:g.219998665C>T	NCBI36
NG_008043.1:g.12323C>T , LRG_380:g.12323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.799C>T
ENST00000683013.1:n.713C>T
ENST00000373960.4:c.1325C>T MANE Select	ENSP00000363071.3:p.Thr442Ile
ENST00000373960.3:c.1325C>T	ENSP00000363071.3:p.Thr442Ile
ENST00000483395.1:n.180C>T
NM_001927.3:c.1325C>T , LRG_380t1:c.1325C>T	NP_001918.3:p.Thr442Ile
NM_001927.4:c.1325C>T MANE Select	NP_001918.3:p.Thr442Ile
NM_001382708.1:c.1322C>T	NP_001369637.1:p.Thr441Ile
NM_001382709.1:c.893C>T	NP_001369638.1:p.Thr298Ile
NM_001382710.1:c.1256C>T	NP_001369639.1:p.Thr419Ile
NM_001382711.1:c.1304C>T	NP_001369640.1:p.Thr435Ile
NM_001382712.1:c.1325C>T	NP_001369641.1:p.Thr442Ile
NM_001382713.1:c.1055C>T	NP_001369642.1:p.Thr352Ile