Canonical Allele Identifier: CA764966095

Gene: DES

Linked Data

• dbSNP Id: rs566280820
• gnomAD v3: 2-219421329-C-G
• gnomAD v4: 2-219421329-C-G
• MyVariant Identifiers: chr2:g.220286051C>G (hg19) ; chr2:g.219421329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421329C>G , CM000664.2:g.219421329C>G	GRCh38
NC_000002.11:g.220286051C>G , CM000664.1:g.220286051C>G	GRCh37
NC_000002.10:g.219994295C>G	NCBI36
NG_008043.1:g.7953C>G , LRG_380:g.7953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-11C>G
ENST00000683013.1:n.412-11C>G
ENST00000373960.4:c.1024-11C>G MANE Select	ENSP00000363071.3:n.1024-11C>G
ENST00000373960.3:c.1024-11C>G	ENSP00000363071.3:n.1024-11C>G
ENST00000477226.5:n.496-11C>G
ENST00000492726.1:n.419-11C>G
NM_001927.3:c.1024-11C>G , LRG_380t1:c.1024-11C>G	NP_001918.3:n.1024-11C>G
NM_001927.4:c.1024-11C>G MANE Select	NP_001918.3:n.1024-11C>G
NM_001382708.1:c.1021-11C>G	NP_001369637.1:n.1021-11C>G
NM_001382709.1:c.736-155C>G	NP_001369638.1:n.736-155C>G
NM_001382710.1:c.1024-80C>G	NP_001369639.1:n.1024-80C>G
NM_001382711.1:c.1024-32C>G	NP_001369640.1:n.1024-32C>G
NM_001382712.1:c.1024-11C>G	NP_001369641.1:n.1024-11C>G
NM_001382713.1:c.754-11C>G	NP_001369642.1:n.754-11C>G