Canonical Allele Identifier: CA350699189

Gene: DES

Linked Data

• gnomAD v4: 2-219425980-A-G
• MyVariant Identifiers: chr2:g.220290702A>G (hg19) ; chr2:g.219425980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425980A>G , CM000664.2:g.219425980A>G	GRCh38
NC_000002.11:g.220290702A>G , CM000664.1:g.220290702A>G	GRCh37
NC_000002.10:g.219998946A>G	NCBI36
NG_008043.1:g.12604A>G , LRG_380:g.12604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.877A>G
ENST00000683013.1:n.791A>G
ENST00000373960.4:c.1403A>G MANE Select	ENSP00000363071.3:p.Glu468Gly
ENST00000373960.3:c.1403A>G	ENSP00000363071.3:p.Glu468Gly
ENST00000483395.1:n.258A>G
NM_001927.3:c.1403A>G , LRG_380t1:c.1403A>G	NP_001918.3:p.Glu468Gly
NM_001927.4:c.1403A>G MANE Select	NP_001918.3:p.Glu468Gly
NM_001382708.1:c.1400A>G	NP_001369637.1:p.Glu467Gly
NM_001382709.1:c.971A>G	NP_001369638.1:p.Glu324Gly
NM_001382710.1:c.1334A>G	NP_001369639.1:p.Glu445Gly
NM_001382711.1:c.1382A>G	NP_001369640.1:p.Glu461Gly
NM_001382712.1:c.1371+235A>G	NP_001369641.1:n.1371+235A>G
NM_001382713.1:c.1133A>G	NP_001369642.1:p.Glu378Gly