Canonical Allele Identifier: CA2125168

Gene: DES

Linked Data

• ClinVar Variation Id: 2084720
• ClinVar RCV Id: RCV002994854
• dbSNP Id: rs754941710
• ExAC: 2:220285372 G / A
• gnomAD v2: 2-220285372-G-A
• gnomAD v4: 2-219420650-G-A
• MyVariant Identifiers: chr2:g.220285372G>A (hg19) ; chr2:g.219420650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420650G>A , CM000664.2:g.219420650G>A	GRCh38
NC_000002.11:g.220285372G>A , CM000664.1:g.220285372G>A	GRCh37
NC_000002.10:g.219993616G>A	NCBI36
NG_008043.1:g.7274G>A , LRG_380:g.7274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.365G>A
ENST00000683013.1:n.279G>A
ENST00000373960.4:c.891G>A MANE Select	ENSP00000363071.3:p.Lys297=
ENST00000373960.3:c.891G>A	ENSP00000363071.3:p.Lys297=
ENST00000477226.5:n.363G>A
ENST00000492726.1:n.286G>A
NM_001927.3:c.891G>A , LRG_380t1:c.891G>A	NP_001918.3:p.Lys297=
NM_001927.4:c.891G>A MANE Select	NP_001918.3:p.Lys297=
NM_001382708.1:c.888G>A	NP_001369637.1:p.Lys296=
NM_001382709.1:c.735+304G>A	NP_001369638.1:n.735+304G>A
NM_001382710.1:c.891G>A	NP_001369639.1:p.Lys297=
NM_001382711.1:c.891G>A	NP_001369640.1:p.Lys297=
NM_001382712.1:c.891G>A	NP_001369641.1:p.Lys297=
NM_001382713.1:c.621G>A	NP_001369642.1:p.Lys207=