Canonical Allele Identifier: CA350698792

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290461T>A (hg19) ; chr2:g.219425739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425739T>A , CM000664.2:g.219425739T>A	GRCh38
NC_000002.11:g.220290461T>A , CM000664.1:g.220290461T>A	GRCh37
NC_000002.10:g.219998705T>A	NCBI36
NG_008043.1:g.12363T>A , LRG_380:g.12363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.839T>A
ENST00000683013.1:n.753T>A
ENST00000373960.4:c.1365T>A MANE Select	ENSP00000363071.3:p.Asp455Glu
ENST00000373960.3:c.1365T>A	ENSP00000363071.3:p.Asp455Glu
ENST00000483395.1:n.220T>A
NM_001927.3:c.1365T>A , LRG_380t1:c.1365T>A	NP_001918.3:p.Asp455Glu
NM_001927.4:c.1365T>A MANE Select	NP_001918.3:p.Asp455Glu
NM_001382708.1:c.1362T>A	NP_001369637.1:p.Asp454Glu
NM_001382709.1:c.933T>A	NP_001369638.1:p.Asp311Glu
NM_001382710.1:c.1296T>A	NP_001369639.1:p.Asp432Glu
NM_001382711.1:c.1344T>A	NP_001369640.1:p.Asp448Glu
NM_001382712.1:c.1365T>A	NP_001369641.1:p.Asp455Glu
NM_001382713.1:c.1095T>A	NP_001369642.1:p.Asp365Glu