Canonical Allele Identifier: CA350699065

Gene: DES

Linked Data

• MyVariant Identifiers: chr2:g.220290692C>A (hg19) ; chr2:g.219425970C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.867C>A
ENST00000683013.1:n.781C>A
ENST00000373960.4:c.1393C>A MANE Select	ENSP00000363071.3:p.Gln465Lys
ENST00000373960.3:c.1393C>A	ENSP00000363071.3:p.Gln465Lys
ENST00000483395.1:n.248C>A
NM_001927.3:c.1393C>A , LRG_380t1:c.1393C>A	NP_001918.3:p.Gln465Lys
NM_001927.4:c.1393C>A MANE Select	NP_001918.3:p.Gln465Lys
NM_001382708.1:c.1390C>A	NP_001369637.1:p.Gln464Lys
NM_001382709.1:c.961C>A	NP_001369638.1:p.Gln321Lys
NM_001382710.1:c.1324C>A	NP_001369639.1:p.Gln442Lys
NM_001382711.1:c.1372C>A	NP_001369640.1:p.Gln458Lys
NM_001382712.1:c.1371+225C>A	NP_001369641.1:n.1371+225C>A
NM_001382713.1:c.1123C>A	NP_001369642.1:p.Gln375Lys