Canonical Allele Identifier: CA2125154

Gene: DES

Linked Data

• ClinVar Variation Id: 578625
• ClinVar RCV Id: RCV000701695 ; RCV001797133
• dbSNP Id: rs772117708
• ExAC: 2:220285223 C / T
• gnomAD v2: 2-220285223-C-T
• gnomAD v4: 2-219420501-C-T
• MyVariant Identifiers: chr2:g.220285223C>T (hg19) ; chr2:g.219420501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420501C>T , CM000664.2:g.219420501C>T	GRCh38
NC_000002.11:g.220285223C>T , CM000664.1:g.220285223C>T	GRCh37
NC_000002.10:g.219993467C>T	NCBI36
NG_008043.1:g.7125C>T , LRG_380:g.7125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.216C>T
ENST00000683013.1:n.130C>T
ENST00000373960.4:c.742C>T MANE Select	ENSP00000363071.3:p.Arg248Cys
ENST00000373960.3:c.742C>T	ENSP00000363071.3:p.Arg248Cys
ENST00000477226.5:n.214C>T
ENST00000492726.1:n.137C>T
NM_001927.3:c.742C>T , LRG_380t1:c.742C>T	NP_001918.3:p.Arg248Cys
NM_001927.4:c.742C>T MANE Select	NP_001918.3:p.Arg248Cys
NM_001382708.1:c.739C>T	NP_001369637.1:p.Arg247Cys
NM_001382709.1:c.735+155C>T	NP_001369638.1:n.735+155C>T
NM_001382710.1:c.742C>T	NP_001369639.1:p.Arg248Cys
NM_001382711.1:c.742C>T	NP_001369640.1:p.Arg248Cys
NM_001382712.1:c.742C>T	NP_001369641.1:p.Arg248Cys
NM_001382713.1:c.496-24C>T	NP_001369642.1:n.496-24C>T