Canonical Allele Identifier: CA350690741

Gene: DES

Linked Data

• ClinVar Variation Id: 2936690
• ClinVar RCV Id: RCV003798928
• gnomAD v4: 2-219420501-C-A
• MyVariant Identifiers: chr2:g.220285223C>A (hg19) ; chr2:g.219420501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420501C>A , CM000664.2:g.219420501C>A	GRCh38
NC_000002.11:g.220285223C>A , CM000664.1:g.220285223C>A	GRCh37
NC_000002.10:g.219993467C>A	NCBI36
NG_008043.1:g.7125C>A , LRG_380:g.7125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.216C>A
ENST00000683013.1:n.130C>A
ENST00000373960.4:c.742C>A MANE Select	ENSP00000363071.3:p.Arg248Ser
ENST00000373960.3:c.742C>A	ENSP00000363071.3:p.Arg248Ser
ENST00000477226.5:n.214C>A
ENST00000492726.1:n.137C>A
NM_001927.3:c.742C>A , LRG_380t1:c.742C>A	NP_001918.3:p.Arg248Ser
NM_001927.4:c.742C>A MANE Select	NP_001918.3:p.Arg248Ser
NM_001382708.1:c.739C>A	NP_001369637.1:p.Arg247Ser
NM_001382709.1:c.735+155C>A	NP_001369638.1:n.735+155C>A
NM_001382710.1:c.742C>A	NP_001369639.1:p.Arg248Ser
NM_001382711.1:c.742C>A	NP_001369640.1:p.Arg248Ser
NM_001382712.1:c.742C>A	NP_001369641.1:p.Arg248Ser
NM_001382713.1:c.496-24C>A	NP_001369642.1:n.496-24C>A