Canonical Allele Identifier: CA350694671

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286198A>T (hg19) ; chr2:g.219421476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421476A>T , CM000664.2:g.219421476A>T	GRCh38
NC_000002.11:g.220286198A>T , CM000664.1:g.220286198A>T	GRCh37
NC_000002.10:g.219994442A>T	NCBI36
NG_008043.1:g.8100A>T , LRG_380:g.8100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.634A>T
ENST00000683013.1:n.548A>T
ENST00000373960.4:c.1160A>T MANE Select	ENSP00000363071.3:p.Glu387Val
ENST00000373960.3:c.1160A>T	ENSP00000363071.3:p.Glu387Val
ENST00000477226.5:n.632A>T
ENST00000492726.1:n.555A>T
NM_001927.3:c.1160A>T , LRG_380t1:c.1160A>T	NP_001918.3:p.Glu387Val
NM_001927.4:c.1160A>T MANE Select	NP_001918.3:p.Glu387Val
NM_001382708.1:c.1157A>T	NP_001369637.1:p.Glu386Val
NM_001382709.1:c.736-8A>T	NP_001369638.1:n.736-8A>T
NM_001382710.1:c.1091A>T	NP_001369639.1:p.Glu364Val
NM_001382711.1:c.1139A>T	NP_001369640.1:p.Glu380Val
NM_001382712.1:c.1160A>T	NP_001369641.1:p.Glu387Val
NM_001382713.1:c.890A>T	NP_001369642.1:p.Glu297Val