Canonical Allele Identifier: CA350698932

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290672T>A (hg19) ; chr2:g.219425950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425950T>A , CM000664.2:g.219425950T>A	GRCh38
NC_000002.11:g.220290672T>A , CM000664.1:g.220290672T>A	GRCh37
NC_000002.10:g.219998916T>A	NCBI36
NG_008043.1:g.12574T>A , LRG_380:g.12574T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.847T>A
ENST00000683013.1:n.761T>A
ENST00000373960.4:c.1373T>A MANE Select	ENSP00000363071.3:p.Val458Asp
ENST00000373960.3:c.1373T>A	ENSP00000363071.3:p.Val458Asp
ENST00000483395.1:n.228T>A
NM_001927.3:c.1373T>A , LRG_380t1:c.1373T>A	NP_001918.3:p.Val458Asp
NM_001927.4:c.1373T>A MANE Select	NP_001918.3:p.Val458Asp
NM_001382708.1:c.1370T>A	NP_001369637.1:p.Val457Asp
NM_001382709.1:c.941T>A	NP_001369638.1:p.Val314Asp
NM_001382710.1:c.1304T>A	NP_001369639.1:p.Val435Asp
NM_001382711.1:c.1352T>A	NP_001369640.1:p.Val451Asp
NM_001382712.1:c.1371+205T>A	NP_001369641.1:n.1371+205T>A
NM_001382713.1:c.1103T>A	NP_001369642.1:p.Val368Asp