Canonical Allele Identifier: CA350685345

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220283522A>G (hg19) ; chr2:g.219418800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418800A>G , CM000664.2:g.219418800A>G	GRCh38
NC_000002.11:g.220283522A>G , CM000664.1:g.220283522A>G	GRCh37
NC_000002.10:g.219991766A>G	NCBI36
NG_008043.1:g.5424A>G , LRG_380:g.5424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.338A>G MANE Select	ENSP00000363071.3:p.Gln113Arg
ENST00000373960.3:c.338A>G	ENSP00000363071.3:p.Gln113Arg
NM_001927.3:c.338A>G , LRG_380t1:c.338A>G	NP_001918.3:p.Gln113Arg
NM_001927.4:c.338A>G MANE Select	NP_001918.3:p.Gln113Arg
NM_001382708.1:c.338A>G	NP_001369637.1:p.Gln113Arg
NM_001382709.1:c.338A>G	NP_001369638.1:p.Gln113Arg
NM_001382710.1:c.338A>G	NP_001369639.1:p.Gln113Arg
NM_001382711.1:c.338A>G	NP_001369640.1:p.Gln113Arg
NM_001382712.1:c.338A>G	NP_001369641.1:p.Gln113Arg
NM_001382713.1:c.338A>G	NP_001369642.1:p.Gln113Arg