Canonical Allele Identifier: CA350699214

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290705T>A (hg19) ; chr2:g.219425983T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425983T>A , CM000664.2:g.219425983T>A	GRCh38
NC_000002.11:g.220290705T>A , CM000664.1:g.220290705T>A	GRCh37
NC_000002.10:g.219998949T>A	NCBI36
NG_008043.1:g.12607T>A , LRG_380:g.12607T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.880T>A
ENST00000683013.1:n.794T>A
ENST00000373960.4:c.1406T>A MANE Select	ENSP00000363071.3:p.Val469Glu
ENST00000373960.3:c.1406T>A	ENSP00000363071.3:p.Val469Glu
ENST00000483395.1:n.261T>A
NM_001927.3:c.1406T>A , LRG_380t1:c.1406T>A	NP_001918.3:p.Val469Glu
NM_001927.4:c.1406T>A MANE Select	NP_001918.3:p.Val469Glu
NM_001382708.1:c.1403T>A	NP_001369637.1:p.Val468Glu
NM_001382709.1:c.974T>A	NP_001369638.1:p.Val325Glu
NM_001382710.1:c.1337T>A	NP_001369639.1:p.Val446Glu
NM_001382711.1:c.1385T>A	NP_001369640.1:p.Val462Glu
NM_001382712.1:c.1371+238T>A	NP_001369641.1:n.1371+238T>A
NM_001382713.1:c.1136T>A	NP_001369642.1:p.Val379Glu