Canonical Allele Identifier: CA2125254

Gene: DES

Linked Data

• dbSNP Id: rs765293482
• ExAC: 2:220286235 T / G
• gnomAD v2: 2-220286235-T-G
• MyVariant Identifiers: chr2:g.220286235T>G (hg19) ; chr2:g.219421513T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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