Canonical Allele Identifier: CA350694934

Gene: DES

Linked Data

• gnomAD v4: 2-219421513-T-A
• MyVariant Identifiers: chr2:g.220286235T>A (hg19) ; chr2:g.219421513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421513T>A , CM000664.2:g.219421513T>A	GRCh38
NC_000002.11:g.220286235T>A , CM000664.1:g.220286235T>A	GRCh37
NC_000002.10:g.219994479T>A	NCBI36
NG_008043.1:g.8137T>A , LRG_380:g.8137T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.671T>A
ENST00000683013.1:n.585T>A
ENST00000373960.4:c.1197T>A MANE Select	ENSP00000363071.3:p.Asp399Glu
ENST00000373960.3:c.1197T>A	ENSP00000363071.3:p.Asp399Glu
ENST00000477226.5:n.669T>A
ENST00000492726.1:n.592T>A
NM_001927.3:c.1197T>A , LRG_380t1:c.1197T>A	NP_001918.3:p.Asp399Glu
NM_001927.4:c.1197T>A MANE Select	NP_001918.3:p.Asp399Glu
NM_001382708.1:c.1194T>A	NP_001369637.1:p.Asp398Glu
NM_001382709.1:c.765T>A	NP_001369638.1:p.Asp255Glu
NM_001382710.1:c.1128T>A	NP_001369639.1:p.Asp376Glu
NM_001382711.1:c.1176T>A	NP_001369640.1:p.Asp392Glu
NM_001382712.1:c.1197T>A	NP_001369641.1:p.Asp399Glu
NM_001382713.1:c.927T>A	NP_001369642.1:p.Asp309Glu