Canonical Allele Identifier: CA764967778

Gene: DES

Linked Data

• dbSNP Id: rs1376457151
• gnomAD v3: 2-219426437-G-A
• gnomAD v4: 2-219426437-G-A
• MyVariant Identifiers: chr2:g.220291159G>A (hg19) ; chr2:g.219426437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426437G>A , CM000664.2:g.219426437G>A	GRCh38
NC_000002.11:g.220291159G>A , CM000664.1:g.220291159G>A	GRCh37
NC_000002.10:g.219999403G>A	NCBI36
NG_008043.1:g.13061G>A , LRG_380:g.13061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.1334G>A
ENST00000683013.1:n.1248G>A
ENST00000373960.4:c.*447G>A MANE Select	ENSP00000363071.3:n.*447G>A
ENST00000373960.3:c.*447G>A	ENSP00000363071.3:n.*447G>A
NM_001927.3:c.*447G>A , LRG_380t1:c.*447G>A	NP_001918.3:n.*447G>A
NM_001927.4:c.*447G>A MANE Select	NP_001918.3:n.*447G>A
NM_001382708.1:c.*447G>A	NP_001369637.1:n.*447G>A
NM_001382709.1:c.*447G>A	NP_001369638.1:n.*447G>A
NM_001382710.1:c.*447G>A	NP_001369639.1:n.*447G>A
NM_001382711.1:c.*447G>A	NP_001369640.1:n.*447G>A
NM_001382712.1:c.1372-116G>A	NP_001369641.1:n.1372-116G>A
NM_001382713.1:c.*447G>A	NP_001369642.1:n.*447G>A