Canonical Allele Identifier: CA350695020

Gene: DES

Linked Data

• ClinVar Variation Id: 2109936
• ClinVar RCV Id: RCV003042121
• MyVariant Identifiers: chr2:g.220286255G>C (hg19) ; chr2:g.219421533G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421533G>C , CM000664.2:g.219421533G>C	GRCh38
NC_000002.11:g.220286255G>C , CM000664.1:g.220286255G>C	GRCh37
NC_000002.10:g.219994499G>C	NCBI36
NG_008043.1:g.8157G>C , LRG_380:g.8157G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.691G>C
ENST00000683013.1:n.605G>C
ENST00000373960.4:c.1217G>C MANE Select	ENSP00000363071.3:p.Arg406Pro
ENST00000373960.3:c.1217G>C	ENSP00000363071.3:p.Arg406Pro
ENST00000477226.5:n.689G>C
ENST00000492726.1:n.612G>C
NM_001927.3:c.1217G>C , LRG_380t1:c.1217G>C	NP_001918.3:p.Arg406Pro
NM_001927.4:c.1217G>C MANE Select	NP_001918.3:p.Arg406Pro
NM_001382708.1:c.1214G>C	NP_001369637.1:p.Arg405Pro
NM_001382709.1:c.785G>C	NP_001369638.1:p.Arg262Pro
NM_001382710.1:c.1148G>C	NP_001369639.1:p.Arg383Pro
NM_001382711.1:c.1196G>C	NP_001369640.1:p.Arg399Pro
NM_001382712.1:c.1217G>C	NP_001369641.1:p.Arg406Pro
NM_001382713.1:c.947G>C	NP_001369642.1:p.Arg316Pro