Canonical Allele Identifier: CA350694898

Gene: DES

Linked Data

• ClinVar Variation Id: 1481128
• ClinVar RCV Id: RCV002000467 ; RCV003146444
• dbSNP Id: rs727502951
• gnomAD v2: 2-220286227-G-T
• gnomAD v3: 2-219421505-G-T
• gnomAD v4: 2-219421505-G-T
• MyVariant Identifiers: chr2:g.220286227G>T (hg19) ; chr2:g.219421505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421505G>T , CM000664.2:g.219421505G>T	GRCh38
NC_000002.11:g.220286227G>T , CM000664.1:g.220286227G>T	GRCh37
NC_000002.10:g.219994471G>T	NCBI36
NG_008043.1:g.8129G>T , LRG_380:g.8129G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.663G>T
ENST00000683013.1:n.577G>T
ENST00000373960.4:c.1189G>T MANE Select	ENSP00000363071.3:p.Ala397Ser
ENST00000373960.3:c.1189G>T	ENSP00000363071.3:p.Ala397Ser
ENST00000477226.5:n.661G>T
ENST00000492726.1:n.584G>T
NM_001927.3:c.1189G>T , LRG_380t1:c.1189G>T	NP_001918.3:p.Ala397Ser
NM_001927.4:c.1189G>T MANE Select	NP_001918.3:p.Ala397Ser
NM_001382708.1:c.1186G>T	NP_001369637.1:p.Ala396Ser
NM_001382709.1:c.757G>T	NP_001369638.1:p.Ala253Ser
NM_001382710.1:c.1120G>T	NP_001369639.1:p.Ala374Ser
NM_001382711.1:c.1168G>T	NP_001369640.1:p.Ala390Ser
NM_001382712.1:c.1189G>T	NP_001369641.1:p.Ala397Ser
NM_001382713.1:c.919G>T	NP_001369642.1:p.Ala307Ser