Canonical Allele Identifier: CA431284402

Gene: DES

Linked Data

• ClinVar Variation Id: 759523
• ClinVar RCV Id: RCV000937358
• dbSNP Id: rs1575014950
• MyVariant Identifiers: chr2:g.220286172G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421450G>A , CM000664.2:g.219421450G>A	GRCh38
NC_000002.11:g.220286172G>A , CM000664.1:g.220286172G>A	GRCh37
NC_000002.10:g.219994416G>A	NCBI36
NG_008043.1:g.8074G>A , LRG_380:g.8074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.608G>A
ENST00000683013.1:n.522G>A
ENST00000373960.4:c.1134G>A MANE Select	ENSP00000363071.3:p.Lys378=
ENST00000373960.3:c.1134G>A	ENSP00000363071.3:p.Lys378=
ENST00000477226.5:n.606G>A
ENST00000492726.1:n.529G>A
NM_001927.3:c.1134G>A , LRG_380t1:c.1134G>A	NP_001918.3:p.Lys378=
NM_001927.4:c.1134G>A MANE Select	NP_001918.3:p.Lys378=
NM_001382708.1:c.1131G>A	NP_001369637.1:p.Lys377=
NM_001382709.1:c.736-34G>A	NP_001369638.1:n.736-34G>A
NM_001382710.1:c.1065G>A	NP_001369639.1:p.Lys355=
NM_001382711.1:c.1113G>A	NP_001369640.1:p.Lys371=
NM_001382712.1:c.1134G>A	NP_001369641.1:p.Lys378=
NM_001382713.1:c.864G>A	NP_001369642.1:p.Lys288=