Canonical Allele Identifier: CA350698249

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290385A>T (hg19) ; chr2:g.219425663A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425663A>T , CM000664.2:g.219425663A>T	GRCh38
NC_000002.11:g.220290385A>T , CM000664.1:g.220290385A>T	GRCh37
NC_000002.10:g.219998629A>T	NCBI36
NG_008043.1:g.12287A>T , LRG_380:g.12287A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.763A>T
ENST00000683013.1:n.677A>T
ENST00000373960.4:c.1289A>T MANE Select	ENSP00000363071.3:p.Glu430Val
ENST00000373960.3:c.1289A>T	ENSP00000363071.3:p.Glu430Val
ENST00000483395.1:n.144A>T
NM_001927.3:c.1289A>T , LRG_380t1:c.1289A>T	NP_001918.3:p.Glu430Val
NM_001927.4:c.1289A>T MANE Select	NP_001918.3:p.Glu430Val
NM_001382708.1:c.1286A>T	NP_001369637.1:p.Glu429Val
NM_001382709.1:c.857A>T	NP_001369638.1:p.Glu286Val
NM_001382710.1:c.1220A>T	NP_001369639.1:p.Glu407Val
NM_001382711.1:c.1268A>T	NP_001369640.1:p.Glu423Val
NM_001382712.1:c.1289A>T	NP_001369641.1:p.Glu430Val
NM_001382713.1:c.1019A>T	NP_001369642.1:p.Glu340Val