Canonical Allele Identifier: CA350695130

Gene: DES

Linked Data

• ClinVar Variation Id: 1058593
• ClinVar RCV Id: RCV001367750
• dbSNP Id: rs751942358
• MyVariant Identifiers: chr2:g.220286281C>G (hg19) ; chr2:g.219421559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421559C>G , CM000664.2:g.219421559C>G	GRCh38
NC_000002.11:g.220286281C>G , CM000664.1:g.220286281C>G	GRCh37
NC_000002.10:g.219994525C>G	NCBI36
NG_008043.1:g.8183C>G , LRG_380:g.8183C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.717C>G
ENST00000683013.1:n.631C>G
ENST00000373960.4:c.1243C>G MANE Select	ENSP00000363071.3:p.Arg415Gly
ENST00000373960.3:c.1243C>G	ENSP00000363071.3:p.Arg415Gly
ENST00000477226.5:n.715C>G
ENST00000492726.1:n.638C>G
NM_001927.3:c.1243C>G , LRG_380t1:c.1243C>G	NP_001918.3:p.Arg415Gly
NM_001927.4:c.1243C>G MANE Select	NP_001918.3:p.Arg415Gly
NM_001382708.1:c.1240C>G	NP_001369637.1:p.Arg414Gly
NM_001382709.1:c.811C>G	NP_001369638.1:p.Arg271Gly
NM_001382710.1:c.1174C>G	NP_001369639.1:p.Arg392Gly
NM_001382711.1:c.1222C>G	NP_001369640.1:p.Arg408Gly
NM_001382712.1:c.1243C>G	NP_001369641.1:p.Arg415Gly
NM_001382713.1:c.973C>G	NP_001369642.1:p.Arg325Gly