Canonical Allele Identifier: CA217023

Gene: DES

Linked Data

• ClinVar Variation Id: 16829
• ClinVar RCV Id: RCV000056775 ; RCV002265562
• dbSNP Id: rs57955682
• MyVariant Identifiers: chr2:g.220286192T>C (hg19) ; chr2:g.219421470T>C (hg38)
• PubMed: PMID:11061256

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421470T>C , CM000664.2:g.219421470T>C	GRCh38
NC_000002.11:g.220286192T>C , CM000664.1:g.220286192T>C	GRCh37
NC_000002.10:g.219994436T>C	NCBI36
NG_008043.1:g.8094T>C , LRG_380:g.8094T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.628T>C
ENST00000683013.1:n.542T>C
ENST00000373960.4:c.1154T>C MANE Select	ENSP00000363071.3:p.Leu385Pro
ENST00000373960.3:c.1154T>C	ENSP00000363071.3:p.Leu385Pro
ENST00000477226.5:n.626T>C
ENST00000492726.1:n.549T>C
NM_001927.3:c.1154T>C , LRG_380t1:c.1154T>C	NP_001918.3:p.Leu385Pro
NM_001927.4:c.1154T>C MANE Select	NP_001918.3:p.Leu385Pro
NM_001382708.1:c.1151T>C	NP_001369637.1:p.Leu384Pro
NM_001382709.1:c.736-14T>C	NP_001369638.1:n.736-14T>C
NM_001382710.1:c.1085T>C	NP_001369639.1:p.Leu362Pro
NM_001382711.1:c.1133T>C	NP_001369640.1:p.Leu378Pro
NM_001382712.1:c.1154T>C	NP_001369641.1:p.Leu385Pro
NM_001382713.1:c.884T>C	NP_001369642.1:p.Leu295Pro