Canonical Allele Identifier: CA350698438

Gene: DES

Linked Data

• ClinVar Variation Id: 1709013
• ClinVar RCV Id: RCV002288297
• gnomAD v4: 2-219425687-C-A
• MyVariant Identifiers: chr2:g.220290409C>A (hg19) ; chr2:g.219425687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425687C>A , CM000664.2:g.219425687C>A	GRCh38
NC_000002.11:g.220290409C>A , CM000664.1:g.220290409C>A	GRCh37
NC_000002.10:g.219998653C>A	NCBI36
NG_008043.1:g.12311C>A , LRG_380:g.12311C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.787C>A
ENST00000683013.1:n.701C>A
ENST00000373960.4:c.1313C>A MANE Select	ENSP00000363071.3:p.Ser438Tyr
ENST00000373960.3:c.1313C>A	ENSP00000363071.3:p.Ser438Tyr
ENST00000483395.1:n.168C>A
NM_001927.3:c.1313C>A , LRG_380t1:c.1313C>A	NP_001918.3:p.Ser438Tyr
NM_001927.4:c.1313C>A MANE Select	NP_001918.3:p.Ser438Tyr
NM_001382708.1:c.1310C>A	NP_001369637.1:p.Ser437Tyr
NM_001382709.1:c.881C>A	NP_001369638.1:p.Ser294Tyr
NM_001382710.1:c.1244C>A	NP_001369639.1:p.Ser415Tyr
NM_001382711.1:c.1292C>A	NP_001369640.1:p.Ser431Tyr
NM_001382712.1:c.1313C>A	NP_001369641.1:p.Ser438Tyr
NM_001382713.1:c.1043C>A	NP_001369642.1:p.Ser348Tyr