Canonical Allele Identifier: CA350695106

Gene: DES

Linked Data

• ClinVar Variation Id: 956285
• ClinVar RCV Id: RCV001229059
• dbSNP Id: rs1954445270
• MyVariant Identifiers: chr2:g.220286276A>G (hg19) ; chr2:g.219421554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421554A>G , CM000664.2:g.219421554A>G	GRCh38
NC_000002.11:g.220286276A>G , CM000664.1:g.220286276A>G	GRCh37
NC_000002.10:g.219994520A>G	NCBI36
NG_008043.1:g.8178A>G , LRG_380:g.8178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.712A>G
ENST00000683013.1:n.626A>G
ENST00000373960.4:c.1238A>G MANE Select	ENSP00000363071.3:p.Glu413Gly
ENST00000373960.3:c.1238A>G	ENSP00000363071.3:p.Glu413Gly
ENST00000477226.5:n.710A>G
ENST00000492726.1:n.633A>G
NM_001927.3:c.1238A>G , LRG_380t1:c.1238A>G	NP_001918.3:p.Glu413Gly
NM_001927.4:c.1238A>G MANE Select	NP_001918.3:p.Glu413Gly
NM_001382708.1:c.1235A>G	NP_001369637.1:p.Glu412Gly
NM_001382709.1:c.806A>G	NP_001369638.1:p.Glu269Gly
NM_001382710.1:c.1169A>G	NP_001369639.1:p.Glu390Gly
NM_001382711.1:c.1217A>G	NP_001369640.1:p.Glu406Gly
NM_001382712.1:c.1238A>G	NP_001369641.1:p.Glu413Gly
NM_001382713.1:c.968A>G	NP_001369642.1:p.Glu323Gly