Canonical Allele Identifier: CA65981069

Gene: DES

Linked Data

• ClinVar Variation Id: 856534
• ClinVar RCV Id: RCV001062011
• dbSNP Id: rs980849177
• gnomAD v4: 2-219418773-C-T
• MyVariant Identifiers: chr2:g.220283495C>T (hg19) ; chr2:g.219418773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418773C>T , CM000664.2:g.219418773C>T	GRCh38
NC_000002.11:g.220283495C>T , CM000664.1:g.220283495C>T	GRCh37
NC_000002.10:g.219991739C>T	NCBI36
NG_008043.1:g.5397C>T , LRG_380:g.5397C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.311C>T MANE Select	ENSP00000363071.3:p.Thr104Met
ENST00000373960.3:c.311C>T	ENSP00000363071.3:p.Thr104Met
NM_001927.3:c.311C>T , LRG_380t1:c.311C>T	NP_001918.3:p.Thr104Met
NM_001927.4:c.311C>T MANE Select	NP_001918.3:p.Thr104Met
NM_001382708.1:c.311C>T	NP_001369637.1:p.Thr104Met
NM_001382709.1:c.311C>T	NP_001369638.1:p.Thr104Met
NM_001382710.1:c.311C>T	NP_001369639.1:p.Thr104Met
NM_001382711.1:c.311C>T	NP_001369640.1:p.Thr104Met
NM_001382712.1:c.311C>T	NP_001369641.1:p.Thr104Met
NM_001382713.1:c.311C>T	NP_001369642.1:p.Thr104Met