Canonical Allele Identifier: CA431284452

Gene: DES

Linked Data

• gnomAD v4: 2-219421477-G-A
• MyVariant Identifiers: chr2:g.220286199G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421477G>A , CM000664.2:g.219421477G>A	GRCh38
NC_000002.11:g.220286199G>A , CM000664.1:g.220286199G>A	GRCh37
NC_000002.10:g.219994443G>A	NCBI36
NG_008043.1:g.8101G>A , LRG_380:g.8101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.635G>A
ENST00000683013.1:n.549G>A
ENST00000373960.4:c.1161G>A MANE Select	ENSP00000363071.3:p.Glu387=
ENST00000373960.3:c.1161G>A	ENSP00000363071.3:p.Glu387=
ENST00000477226.5:n.633G>A
ENST00000492726.1:n.556G>A
NM_001927.3:c.1161G>A , LRG_380t1:c.1161G>A	NP_001918.3:p.Glu387=
NM_001927.4:c.1161G>A MANE Select	NP_001918.3:p.Glu387=
NM_001382708.1:c.1158G>A	NP_001369637.1:p.Glu386=
NM_001382709.1:c.736-7G>A	NP_001369638.1:n.736-7G>A
NM_001382710.1:c.1092G>A	NP_001369639.1:p.Glu364=
NM_001382711.1:c.1140G>A	NP_001369640.1:p.Glu380=
NM_001382712.1:c.1161G>A	NP_001369641.1:p.Glu387=
NM_001382713.1:c.891G>A	NP_001369642.1:p.Glu297=