Canonical Allele Identifier: CA133826

Gene: DES

Linked Data

• ClinVar Variation Id: 44251
• ClinVar RCV Id: RCV001852772
• dbSNP Id: rs397516690
• gnomAD v4: 2-219425740-G-A
• MyVariant Identifiers: chr2:g.220290462G>A (hg19) ; chr2:g.219425740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425740G>A , CM000664.2:g.219425740G>A	GRCh38
NC_000002.11:g.220290462G>A , CM000664.1:g.220290462G>A	GRCh37
NC_000002.10:g.219998706G>A	NCBI36
NG_008043.1:g.12364G>A , LRG_380:g.12364G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.840G>A
ENST00000683013.1:n.754G>A
ENST00000373960.4:c.1366G>A MANE Select	ENSP00000363071.3:p.Gly456Arg
ENST00000373960.3:c.1366G>A	ENSP00000363071.3:p.Gly456Arg
ENST00000483395.1:n.221G>A
NM_001927.3:c.1366G>A , LRG_380t1:c.1366G>A	NP_001918.3:p.Gly456Arg
NM_001927.4:c.1366G>A MANE Select	NP_001918.3:p.Gly456Arg
NM_001382708.1:c.1363G>A	NP_001369637.1:p.Gly455Arg
NM_001382709.1:c.934G>A	NP_001369638.1:p.Gly312Arg
NM_001382710.1:c.1297G>A	NP_001369639.1:p.Gly433Arg
NM_001382711.1:c.1345G>A	NP_001369640.1:p.Gly449Arg
NM_001382712.1:c.1366G>A	NP_001369641.1:p.Gly456Arg
NM_001382713.1:c.1096G>A	NP_001369642.1:p.Gly366Arg