Canonical Allele Identifier: CA350686173

Gene: DES

Linked Data

• ClinVar Variation Id: 541299
• ClinVar RCV Id: RCV000651539
• dbSNP Id: rs1553603267
• gnomAD v4: 2-219418896-G-A
• MyVariant Identifiers: chr2:g.220283618G>A (hg19) ; chr2:g.219418896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418896G>A , CM000664.2:g.219418896G>A	GRCh38
NC_000002.11:g.220283618G>A , CM000664.1:g.220283618G>A	GRCh37
NC_000002.10:g.219991862G>A	NCBI36
NG_008043.1:g.5520G>A , LRG_380:g.5520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.434G>A MANE Select	ENSP00000363071.3:p.Gly145Asp
ENST00000373960.3:c.434G>A	ENSP00000363071.3:p.Gly145Asp
NM_001927.3:c.434G>A , LRG_380t1:c.434G>A	NP_001918.3:p.Gly145Asp
NM_001927.4:c.434G>A MANE Select	NP_001918.3:p.Gly145Asp
NM_001382708.1:c.434G>A	NP_001369637.1:p.Gly145Asp
NM_001382709.1:c.434G>A	NP_001369638.1:p.Gly145Asp
NM_001382710.1:c.434G>A	NP_001369639.1:p.Gly145Asp
NM_001382711.1:c.434G>A	NP_001369640.1:p.Gly145Asp
NM_001382712.1:c.434G>A	NP_001369641.1:p.Gly145Asp
NM_001382713.1:c.434G>A	NP_001369642.1:p.Gly145Asp