Canonical Allele Identifier: CA350686276

Gene: DES

Linked Data

• ClinVar Variation Id: 1740814
• ClinVar RCV Id: RCV002328465
• gnomAD v4: 2-219418908-C-G
• MyVariant Identifiers: chr2:g.220283630C>G (hg19) ; chr2:g.219418908C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418908C>G , CM000664.2:g.219418908C>G	GRCh38
NC_000002.11:g.220283630C>G , CM000664.1:g.220283630C>G	GRCh37
NC_000002.10:g.219991874C>G	NCBI36
NG_008043.1:g.5532C>G , LRG_380:g.5532C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.446C>G MANE Select	ENSP00000363071.3:p.Thr149Arg
ENST00000373960.3:c.446C>G	ENSP00000363071.3:p.Thr149Arg
NM_001927.3:c.446C>G , LRG_380t1:c.446C>G	NP_001918.3:p.Thr149Arg
NM_001927.4:c.446C>G MANE Select	NP_001918.3:p.Thr149Arg
NM_001382708.1:c.446C>G	NP_001369637.1:p.Thr149Arg
NM_001382709.1:c.446C>G	NP_001369638.1:p.Thr149Arg
NM_001382710.1:c.446C>G	NP_001369639.1:p.Thr149Arg
NM_001382711.1:c.446C>G	NP_001369640.1:p.Thr149Arg
NM_001382712.1:c.446C>G	NP_001369641.1:p.Thr149Arg
NM_001382713.1:c.446C>G	NP_001369642.1:p.Thr149Arg