Canonical Allele Identifier: CA350694984

Gene: DES

Linked Data

• ClinVar Variation Id: 2102249
• ClinVar RCV Id: RCV003037634
• MyVariant Identifiers: chr2:g.220286246C>A (hg19) ; chr2:g.219421524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421524C>A , CM000664.2:g.219421524C>A	GRCh38
NC_000002.11:g.220286246C>A , CM000664.1:g.220286246C>A	GRCh37
NC_000002.10:g.219994490C>A	NCBI36
NG_008043.1:g.8148C>A , LRG_380:g.8148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.682C>A
ENST00000683013.1:n.596C>A
ENST00000373960.4:c.1208C>A MANE Select	ENSP00000363071.3:p.Ala403Asp
ENST00000373960.3:c.1208C>A	ENSP00000363071.3:p.Ala403Asp
ENST00000477226.5:n.680C>A
ENST00000492726.1:n.603C>A
NM_001927.3:c.1208C>A , LRG_380t1:c.1208C>A	NP_001918.3:p.Ala403Asp
NM_001927.4:c.1208C>A MANE Select	NP_001918.3:p.Ala403Asp
NM_001382708.1:c.1205C>A	NP_001369637.1:p.Ala402Asp
NM_001382709.1:c.776C>A	NP_001369638.1:p.Ala259Asp
NM_001382710.1:c.1139C>A	NP_001369639.1:p.Ala380Asp
NM_001382711.1:c.1187C>A	NP_001369640.1:p.Ala396Asp
NM_001382712.1:c.1208C>A	NP_001369641.1:p.Ala403Asp
NM_001382713.1:c.938C>A	NP_001369642.1:p.Ala313Asp