Canonical Allele Identifier: CA217032

Gene: DES

Linked Data

• ClinVar Variation Id: 66396
• ClinVar RCV Id: RCV002265588
• dbSNP Id: rs61130669
• MyVariant Identifiers: chr2:g.220286233G>T (hg19) ; chr2:g.219421511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421511G>T , CM000664.2:g.219421511G>T	GRCh38
NC_000002.11:g.220286233G>T , CM000664.1:g.220286233G>T	GRCh37
NC_000002.10:g.219994477G>T	NCBI36
NG_008043.1:g.8135G>T , LRG_380:g.8135G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.669G>T
ENST00000683013.1:n.583G>T
ENST00000373960.4:c.1195G>T MANE Select	ENSP00000363071.3:p.Asp399Tyr
ENST00000373960.3:c.1195G>T	ENSP00000363071.3:p.Asp399Tyr
ENST00000477226.5:n.667G>T
ENST00000492726.1:n.590G>T
NM_001927.3:c.1195G>T , LRG_380t1:c.1195G>T	NP_001918.3:p.Asp399Tyr
NM_001927.4:c.1195G>T MANE Select	NP_001918.3:p.Asp399Tyr
NM_001382708.1:c.1192G>T	NP_001369637.1:p.Asp398Tyr
NM_001382709.1:c.763G>T	NP_001369638.1:p.Asp255Tyr
NM_001382710.1:c.1126G>T	NP_001369639.1:p.Asp376Tyr
NM_001382711.1:c.1174G>T	NP_001369640.1:p.Asp392Tyr
NM_001382712.1:c.1195G>T	NP_001369641.1:p.Asp399Tyr
NM_001382713.1:c.925G>T	NP_001369642.1:p.Asp309Tyr