Canonical Allele Identifier: CA350699068

Gene: DES

Linked Data

• gnomAD v4: 2-219425970-C-G
• MyVariant Identifiers: chr2:g.220290692C>G (hg19) ; chr2:g.219425970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425970C>G , CM000664.2:g.219425970C>G	GRCh38
NC_000002.11:g.220290692C>G , CM000664.1:g.220290692C>G	GRCh37
NC_000002.10:g.219998936C>G	NCBI36
NG_008043.1:g.12594C>G , LRG_380:g.12594C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.867C>G
ENST00000683013.1:n.781C>G
ENST00000373960.4:c.1393C>G MANE Select	ENSP00000363071.3:p.Gln465Glu
ENST00000373960.3:c.1393C>G	ENSP00000363071.3:p.Gln465Glu
ENST00000483395.1:n.248C>G
NM_001927.3:c.1393C>G , LRG_380t1:c.1393C>G	NP_001918.3:p.Gln465Glu
NM_001927.4:c.1393C>G MANE Select	NP_001918.3:p.Gln465Glu
NM_001382708.1:c.1390C>G	NP_001369637.1:p.Gln464Glu
NM_001382709.1:c.961C>G	NP_001369638.1:p.Gln321Glu
NM_001382710.1:c.1324C>G	NP_001369639.1:p.Gln442Glu
NM_001382711.1:c.1372C>G	NP_001369640.1:p.Gln458Glu
NM_001382712.1:c.1371+225C>G	NP_001369641.1:n.1371+225C>G
NM_001382713.1:c.1123C>G	NP_001369642.1:p.Gln375Glu