Canonical Allele Identifier: CA350694491

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220286176G>A (hg19) ; chr2:g.219421454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421454G>A , CM000664.2:g.219421454G>A	GRCh38
NC_000002.11:g.220286176G>A , CM000664.1:g.220286176G>A	GRCh37
NC_000002.10:g.219994420G>A	NCBI36
NG_008043.1:g.8078G>A , LRG_380:g.8078G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.612G>A
ENST00000683013.1:n.526G>A
ENST00000373960.4:c.1138G>A MANE Select	ENSP00000363071.3:p.Glu380Lys
ENST00000373960.3:c.1138G>A	ENSP00000363071.3:p.Glu380Lys
ENST00000477226.5:n.610G>A
ENST00000492726.1:n.533G>A
NM_001927.3:c.1138G>A , LRG_380t1:c.1138G>A	NP_001918.3:p.Glu380Lys
NM_001927.4:c.1138G>A MANE Select	NP_001918.3:p.Glu380Lys
NM_001382708.1:c.1135G>A	NP_001369637.1:p.Glu379Lys
NM_001382709.1:c.736-30G>A	NP_001369638.1:n.736-30G>A
NM_001382710.1:c.1069G>A	NP_001369639.1:p.Glu357Lys
NM_001382711.1:c.1117G>A	NP_001369640.1:p.Glu373Lys
NM_001382712.1:c.1138G>A	NP_001369641.1:p.Glu380Lys
NM_001382713.1:c.868G>A	NP_001369642.1:p.Glu290Lys