Canonical Allele Identifier: CA350698927

Gene: DES

Linked Data

• dbSNP Id: rs762635412
• gnomAD v2: 2-220290671-G-T
• gnomAD v4: 2-219425949-G-T
• MyVariant Identifiers: chr2:g.220290671G>T (hg19) ; chr2:g.219425949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425949G>T , CM000664.2:g.219425949G>T	GRCh38
NC_000002.11:g.220290671G>T , CM000664.1:g.220290671G>T	GRCh37
NC_000002.10:g.219998915G>T	NCBI36
NG_008043.1:g.12573G>T , LRG_380:g.12573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846G>T
ENST00000683013.1:n.760G>T
ENST00000373960.4:c.1372G>T MANE Select	ENSP00000363071.3:p.Val458Phe
ENST00000373960.3:c.1372G>T	ENSP00000363071.3:p.Val458Phe
ENST00000483395.1:n.227G>T
NM_001927.3:c.1372G>T , LRG_380t1:c.1372G>T	NP_001918.3:p.Val458Phe
NM_001927.4:c.1372G>T MANE Select	NP_001918.3:p.Val458Phe
NM_001382708.1:c.1369G>T	NP_001369637.1:p.Val457Phe
NM_001382709.1:c.940G>T	NP_001369638.1:p.Val314Phe
NM_001382710.1:c.1303G>T	NP_001369639.1:p.Val435Phe
NM_001382711.1:c.1351G>T	NP_001369640.1:p.Val451Phe
NM_001382712.1:c.1371+204G>T	NP_001369641.1:n.1371+204G>T
NM_001382713.1:c.1102G>T	NP_001369642.1:p.Val368Phe