Canonical Allele Identifier: CA350694072

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286121T>G (hg19) ; chr2:g.219421399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421399T>G , CM000664.2:g.219421399T>G	GRCh38
NC_000002.11:g.220286121T>G , CM000664.1:g.220286121T>G	GRCh37
NC_000002.10:g.219994365T>G	NCBI36
NG_008043.1:g.8023T>G , LRG_380:g.8023T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.557T>G
ENST00000683013.1:n.471T>G
ENST00000373960.4:c.1083T>G MANE Select	ENSP00000363071.3:p.Ser361Arg
ENST00000373960.3:c.1083T>G	ENSP00000363071.3:p.Ser361Arg
ENST00000477226.5:n.555T>G
ENST00000492726.1:n.478T>G
NM_001927.3:c.1083T>G , LRG_380t1:c.1083T>G	NP_001918.3:p.Ser361Arg
NM_001927.4:c.1083T>G MANE Select	NP_001918.3:p.Ser361Arg
NM_001382708.1:c.1080T>G	NP_001369637.1:p.Ser360Arg
NM_001382709.1:c.736-85T>G	NP_001369638.1:n.736-85T>G
NM_001382710.1:c.1024-10T>G	NP_001369639.1:n.1024-10T>G
NM_001382711.1:c.1062T>G	NP_001369640.1:p.Ser354Arg
NM_001382712.1:c.1083T>G	NP_001369641.1:p.Ser361Arg
NM_001382713.1:c.813T>G	NP_001369642.1:p.Ser271Arg