Canonical Allele Identifier: CA350694910

Gene: DES

Linked Data

• gnomAD v4: 2-219421506-C-G
• MyVariant Identifiers: chr2:g.220286228C>G (hg19) ; chr2:g.219421506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421506C>G , CM000664.2:g.219421506C>G	GRCh38
NC_000002.11:g.220286228C>G , CM000664.1:g.220286228C>G	GRCh37
NC_000002.10:g.219994472C>G	NCBI36
NG_008043.1:g.8130C>G , LRG_380:g.8130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.664C>G
ENST00000683013.1:n.578C>G
ENST00000373960.4:c.1190C>G MANE Select	ENSP00000363071.3:p.Ala397Gly
ENST00000373960.3:c.1190C>G	ENSP00000363071.3:p.Ala397Gly
ENST00000477226.5:n.662C>G
ENST00000492726.1:n.585C>G
NM_001927.3:c.1190C>G , LRG_380t1:c.1190C>G	NP_001918.3:p.Ala397Gly
NM_001927.4:c.1190C>G MANE Select	NP_001918.3:p.Ala397Gly
NM_001382708.1:c.1187C>G	NP_001369637.1:p.Ala396Gly
NM_001382709.1:c.758C>G	NP_001369638.1:p.Ala253Gly
NM_001382710.1:c.1121C>G	NP_001369639.1:p.Ala374Gly
NM_001382711.1:c.1169C>G	NP_001369640.1:p.Ala390Gly
NM_001382712.1:c.1190C>G	NP_001369641.1:p.Ala397Gly
NM_001382713.1:c.920C>G	NP_001369642.1:p.Ala307Gly