Canonical Allele Identifier: CA539843252

Gene: DES

Linked Data

• dbSNP Id: rs1352765787
• gnomAD v2: 2-220286023-C-G
• gnomAD v4: 2-219421301-C-G
• MyVariant Identifiers: chr2:g.220286023C>G (hg19) ; chr2:g.219421301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421301C>G , CM000664.2:g.219421301C>G	GRCh38
NC_000002.11:g.220286023C>G , CM000664.1:g.220286023C>G	GRCh37
NC_000002.10:g.219994267C>G	NCBI36
NG_008043.1:g.7925C>G , LRG_380:g.7925C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-39C>G
ENST00000683013.1:n.412-39C>G
ENST00000373960.4:c.1024-39C>G MANE Select	ENSP00000363071.3:n.1024-39C>G
ENST00000373960.3:c.1024-39C>G	ENSP00000363071.3:n.1024-39C>G
ENST00000477226.5:n.496-39C>G
ENST00000492726.1:n.419-39C>G
NM_001927.3:c.1024-39C>G , LRG_380t1:c.1024-39C>G	NP_001918.3:n.1024-39C>G
NM_001927.4:c.1024-39C>G MANE Select	NP_001918.3:n.1024-39C>G
NM_001382708.1:c.1021-39C>G	NP_001369637.1:n.1021-39C>G
NM_001382709.1:c.736-183C>G	NP_001369638.1:n.736-183C>G
NM_001382710.1:c.1024-108C>G	NP_001369639.1:n.1024-108C>G
NM_001382711.1:c.1024-60C>G	NP_001369640.1:n.1024-60C>G
NM_001382712.1:c.1024-39C>G	NP_001369641.1:n.1024-39C>G
NM_001382713.1:c.754-39C>G	NP_001369642.1:n.754-39C>G