Canonical Allele Identifier: CA350686844

Gene: DES

Linked Data

• dbSNP Id: rs1489472720
• gnomAD v2: 2-220283705-C-T
• gnomAD v4: 2-219418983-C-T
• MyVariant Identifiers: chr2:g.220283705C>T (hg19) ; chr2:g.219418983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418983C>T , CM000664.2:g.219418983C>T	GRCh38
NC_000002.11:g.220283705C>T , CM000664.1:g.220283705C>T	GRCh37
NC_000002.10:g.219991949C>T	NCBI36
NG_008043.1:g.5607C>T , LRG_380:g.5607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.521C>T MANE Select	ENSP00000363071.3:p.Ala174Val
ENST00000373960.3:c.521C>T	ENSP00000363071.3:p.Ala174Val
NM_001927.3:c.521C>T , LRG_380t1:c.521C>T	NP_001918.3:p.Ala174Val
NM_001927.4:c.521C>T MANE Select	NP_001918.3:p.Ala174Val
NM_001382708.1:c.521C>T	NP_001369637.1:p.Ala174Val
NM_001382709.1:c.521C>T	NP_001369638.1:p.Ala174Val
NM_001382710.1:c.521C>T	NP_001369639.1:p.Ala174Val
NM_001382711.1:c.521C>T	NP_001369640.1:p.Ala174Val
NM_001382712.1:c.521C>T	NP_001369641.1:p.Ala174Val
NM_001382713.1:c.495+26C>T	NP_001369642.1:n.495+26C>T